• Title/Summary/Keyword: Genetic relation

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DNA Methylation of Multiple Genes in Gastric Cancer: Association with CpG Island Methylator Phenotype and Helicobocter pylori Infection (위암에서 유전자 메틸화와 CpG Island Methylator Phenotype 및 Helicobacter pylori균 감염과의 연관성)

  • Jun, Kyong-Hwa;Won, Yong-Sung;Shin, Eun-Young;Cho, Hyun-Min;Im, Myoung-Goo;Chin, Hyung-Min;Park, Woo-Bae
    • Journal of Gastric Cancer
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    • v.6 no.4
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    • pp.227-236
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    • 2006
  • Purpose: Methylation of gene regulatory elements plays an important role in gene inactivation without genetic alteration. Gastric cancer is one of the tumors that exhibit a high frequency of CpG island hypermethylation. The purpose of this study was to investigate the occurrence of CpG island hypermethylation in gastric carcinoma in relation to H. pylori infection, CIMP and clincopathologic variables. Materials and Methods: We investigated the promoter methylation Status of six genes (hMLH1, p16, p14, COX-2, MGMT, E-cadherin) and CIMP in 36 gastric carcinoma tissues as well as in nontumor tissues. CIMP status was investigated by examining the methylation status of MINT 1, 2, 12, 25 and 31. The methylation status of the promoter was examined by methylation-specific PCR (MSP) and H. pylori infection was examined by histological diagnosis after staining with Warthin-Starry silver. Results: Among the 36 gastric carcinoma tissues, DNA hypermethylation was detected in the following frequencies: 14 (38.9%) for p14, 13 (36.1%) for p16, 8 (22.2%) for MGMT, 10 (27.8%) for COX-2, 21 (58.3%) for E-cadherin, and 6 (16.7%) for hMLH1. The frequencies for MINT1 and MINT25 hypermethylation were significantly higher in tumor tissues than in nontumor tissues. 16 (44.4%) of the 36 gastric carcinoma tissues were positive for the CIMP CIMP-H tumors were associated with older patients and larger tumor size than CIMP-L tumors. We found a significant association between the presence of the CIMP and hypermethylation of p16. Hypermethylation of p16 and MINT2 were significantly different when compared by age. MINT1 gene methylation was significantly associated with H. pylori infection (P=0.004). Conclusion: Our results suggest that aberrant hypermethylation of multiple tumor related genes (hMLH1, p16, p14, COX-2, MGMT, E-cadherin, MINT1, 2, 12, 25, 31) occurs frequently in gastric carcinoma tissues. The hypermethylation of MINT1 was significantly higher in the tumor tissues and was associated with H. pylori infection.

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The Relation between Microsatellite Instability and the Thymidylate Synthase Expression in Gastric Cancer (위암에서 Microsatellite Instability와 Thymidylate Synthase의 상관관계)

  • Ko, Hyun-Seok;Ahn, Chang-Wook;Kang, Hae-Youn;Kim, Kwang-Il;Hong, Sung-Pyo;Ahn, Dae-Ho
    • Journal of Gastric Cancer
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    • v.8 no.4
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    • pp.169-175
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    • 2008
  • Purpose: The main target of 5-fluorouracil (5-FU) is thymidylate synthase (TS). A high TS expression has been identified as promoting resistance to 5-FU. For colorectal cancers, the response to 5-FU based adjuvant chemotherapy is different according to the microsatellite instability (MSI) status. The reports on the relationship between MSI and the TS expression in colorectal cancer have been inconsistent. No data is available for gastric cancer regarding the relationship between MSI and the TS expression. Therefore, we studied the relationship between MSI and the TS expression in gastric cancer. Materials and Methods: Ninety-nine consecutive patients who underwent radical gastrectomy for gastric cancer from January 2004 to May 2006 at Bundang CHA hospital were studied. MSI was assessed for five markers (BAT25, BAT26, D2S123, D5S346, and D17S250) by PCR and with using an ABI prism 3100 Genetic analyzer. The TS expression was analyzed by immunohistochemistry with using mouse anti-thymidylate synthase monoclonal antibody to the TS 106 clone. Results: Out of the ninety-nine patients, MSS/MSI-L was detected in 92 (92.1%) cases and 7 cases (7.1%) were MSI-H. A negative TS expression was found in 46 (46.5%) cases, a low TS expression was found in 33 (33.3%) and a high TS expression was found in 20 (20.2%). Out of 92 MSS/MSI-L patients, the number of patients with negative, low and high TS expressions were 46 (50%), 30 (32.6%) and 16 (17.4%), respectively. Out of the 7 MSI-H patients, the number of patients with negative, low and high TS expressions were 0 (0%), 3 (42.9%) and 4 (57.1%), respectively. The relationship between MSI-H and a high TS expression was statistically significant. Conclusion: Gastric cancer with MSI-H showed higher levels of a TS expression compared to the gastric cancer with MSS/MSI-L.

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Lived experience of mothers who have child with cerebral palsy (뇌성마비아 어머니의 경험)

  • Lee Hwa Za;Kim Yee Soon;Lee Gee Won;Gwan Soo Za;Kang In Soon;An Hea Gyung
    • Child Health Nursing Research
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    • v.2 no.1
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    • pp.93-111
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    • 1996
  • The purpose of the study is to identify the lived experience of mothers who have children with cerebral palsy in order to understand their agony. Moreover, the result of study was to find some nursing intervention for disabled children and their mothers. For this purpose, ten mothers who are willing to cooperate with this research were selected at random from those who have children with the cerebral palsy, currently using the municipal facilities for the handicapped with cerebral malfunction. Data collection was done from October 4, 1994 th December 31, 1994. The data were collected by asking the mothers mentioned above with some unstructured open-ended questions, recorded on the tapes with permission by the interviewee in order to prevent missing of the interviewed contents. These collected data have been substantiated and properly analyzed on the basis of phenomenological approach initiated by Colaizzi's method. The results and validity are proved to be credible by means of the individual checking of the interviewed mothers. The results of this study are as follows : 1. When the mother is first informed of the diagnosis of cerebral palsy on her child, she usually misses the crucial timing needed for proper treatment of the child's disorder because she is notified through the doctor's indifference and his apparently inactive, matter-of-fact attitude. At first she suspects the doctor's diagnosis and tries to attribute it to the unknown cause from a certain genetic problem and then she quickly wants to deny the whole situation that her child is really suffering from the cerebral palsy. The reality is too much for her to accept as it is and she would not believe her child is abnormal. Therefore, she even attempts depend on the power of God for its solution. 2. The mother, who goes thorough this kind of uncommon experiences, is totally devoted to the treatment and care of the child and completely ignores her own life and happiness. At the same time, she feels sorry for her other normal children she believes having not enough care and concern. Also, she feels sorry for the sick child when the child's brothers or sisters show special concern for the patient out of sympathy. It is sorry and not satisfied for her that the child is growing with abnormality and neighbor other around have inappropriate attitudes. Likewise, she is discontent with her husband's lack of concern about the child's treatment. She believes that the health care system in this society isn't fulfilling its due purpose. In the state of her utmost distress and anxiety, she always feels the need of competent consultants, and is angry about that her child is treated as an abnormal being, she is trying to hide the child from other people and to make him or her disappear, if possible. Although she doesn't have harmonious relation with her husband, she id happy when he shows his affection for the child and she feels relieved and thankful when the relatives don't mention about the child's condition Since the child's overall status of health is continuously in unstable conditions, requiring her all-time readiness for an emergency, she feels guilty of her child's illness toward the fEmily members as if it was her own fault to have borne such an abnormal child and she feels responsible for the child morally and financially if necessary Because her life is centered on taking care of the child, she cannot afford to enjoy her own life and happiness. She is a lonely mother, fatigued, with no proper relationship with other people around her. With this sense of guilt and responsibility as a mother of an unusual disease, she has no choice but to grieve her destiny from which she is not allowed to escape. 3. Nevertheless, the mother with the child suffering from the cerebral palsy does not easily give up the hope of getting her child cured and she believes that in the long run, though slower than hoped, her abnormal son or daughter will be eventually cured to become a normal sibling someday. This kind of hope is sustained by the mother's strong faith coming from observing the progress of other similar children getting better. Sometimes she is encouraged to have this faith by other mothers who share the same painful experiences, believing that her child will improve even more rapidly than others with the same palsy. Full of hope, she painstakingly waits for the child's healing. Moreover, she plans to have another child. she thinks that the patient child's brothers and sisters only can truly understand and look after the patients. However, when she notices that the progress of other children under the treatment does not look so hopeful, she is distressed by the thoughts that her child may never get well. Too, she is worried that the patient's brother or sister will be born as the same invalid with the cerebral disease. She is discouraged to have another baby as much as she is encouraged to. She is also troubled by the thought that in case she has another baby, she will have to be forced. to neglect the patient child, especially when she does have an extra hand or some reliable person to help her with taking care of the patient.

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A Study on Nutritional Status of Young Children in Rural Korea (농촌영유아의 영양상태(營養狀態)에 관(關)한 조사연구(調査硏究))

  • Kim, Kyoung-Sik;Kim, Pang-Ji;Nam, Sang-Ok;Choi, Jung-Shin
    • Journal of Preventive Medicine and Public Health
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    • v.7 no.1
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    • pp.1-28
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    • 1974
  • The writers have conducted the investigation to assess the nutritional status of young rural Korean children aged from 0 to 4 years old in August 1971. The survey areas were Kaejong-myon. Daeya-myon, Okku-gun, Jeonra-bukdo, Korea. These survey areas were typical agricultural plain areas. The total numbers of children examined were 2,706 comprising 1,394 male and 1,312 female. The weight, height, and chest circumference of children were measured and means and standard deviations. were calculated for each measurement. In addition, the nutritional status of each child was classified by the four levels of malnutrition and the Gomez classification, The examination of red blood cell count, haematocrit value, and intestinal parasite infection were carried out at the same time. In general, recent work tend to suggest that environmental influences, especially nutrition, are of great importance than genetic background or other biological factors for physical growth and development. Certainly the physical dimensions of the body are much influenced by nutrition, particularly in the rapidly growing period of early childhood. Selected body measurements can therefore give valuable information concerning protein-calory malnutrition. Growth can also be affected by bacterial, viral, and parasitic infection. For the field workers in a developing country, therefore, nutritional anthropometry appears to be of greatest value in the assessment of growth failure and undernutrition, principally from lack of protein and calories. In order to compare and evaluate the data obtained, the optimal data of growth from the off-spring of the true well-fed, medically and socially protected are needed. So-called 'Standards' that have been compiled for preschool children in Korea, however, are based on measurement of children from middle or lower socio-economic groups, who are, in fact, usually undernourished from six months of age onwards and continuously exposed to a succession of infective and parasitic diseases. So that, the Harvard Standards which is one of the international reference standards was used as the reference standards in this study. Findings of the survey were as follows: A. Anthropometric data: 1) Comparing the mean values for body weight obtained with the Korean standard weight of the same age, the rural Korean children were slightly haevier than the Korean standard values in both sexes. Comparing with the Japanese children values, the rural Korean children were slightly haevier in male and in the infant period of female but lighter in female of the period of 1 to 4 years old than Japanese children. 2) Comparing the mean values for height obtained with the Korean standard height of the same age, the rural Korean children were taller than the Korean standard values except the second half of infatn period in both sexes. Comparing with the Japanese children, the rural Korean children were slightly smaller than Japanese children except the first half of infant peroid in both sexes. 3) Mear values of chest circumference of rural Korean children obtained were less than the Korean standard values of the same ages in both sexes. B. Prevalence of Protein-Calory Malnutrition: Children examined were devided into two groups, i. e., infant(up to the first birthday) and toddler (1 to 4 fears old). 1) Percentages of four levels of malnutrition: a) When the nutrtional status of each child was classified (1) by body weight value, the percentages for male and female of children attained standard growth were 52.8%(infant 83.3%, toddler 44.4%) and 39.7% (infant 74.5%. toddler 30.5%), the first level of malnutrition were 31.9%(infant 13.7%, toddler 36.9%) and 31.7%(infant 15.3%, toddler 36,0%), the second level of malnutrition were 12.3%(infant 1.7%, toddler 15.3%) and 23.3% (infant 7.7%, fodder 27.5%), the third level of malnutrition were 2.7%(infant 0.7%, toddler 3.2%) and 4.6%(infant 1.8%, toddler 5.3%) the fourth level of malnutrition were 0.3% (infant 0.7%, toddler 0.2%) and 0.7% (0.7% for infant and toddler) respectively. (2) by height value, the percentages for male and female of children attained standard growth were 80.3% (infant 97.3%, toddler 75.6%) and 75.1% (infant 96.4%, toddler 69.5), the first level of malnutrition were 17.9% (infant 2.0%, toddler 22.3%) and 23.6% (infants 3.6%, toddler 28.8%), the second level of malnutrition were 1.2% (infant 0.3%, toddler 1.5%) and 1.1% (infant 0%, toddler 1.4%), the third level of malnutrition were 0.4%(infant 0.3%, toddler 0.5%) and 0.2%(infant 0%, toddler 0.3%), the fourth level of malnutrition were 0.1%(infant 0%, toddler 0.1%) and 0% respectively. (3) by body weight in relation to height, the percentages for male and female of children attained standard growth were 87.9% (infant 77.6%, toddler 87.9%) and 78.2% (infant 77.4%, toddler 78.2%), the first level of malnutrition were 12.2% (infant 18.4%, toddler 10.6%) and 18.2% (infant 17.9%, toddler 18.3%), the second level of malnutrition were 1.9%(infant 3.3%, toddler 1.5%) and 3.0%(infant 3.3%, toddler 2.9%), the third level of malnutrition were 0.1%(infant 0%. toddler 0.1%) and 0.5% (infant 0%, toddler 0.6%), the fourth level of malnutrition were 0.1%(infant 0.7%, toddler 0%) and 0.3% (infant 1.5%, toddler 0%) respectively. b) When the nutritional status of each child according to the mother's age at perturition, i. e., young aged mother (up to 30 years old), middle aged mother (31 to 40 years old) and old aged mother (41 years or above) was classified (1) by body weight, among infants and toddlers, at each year of age, with increasing the mother's age, there was an increase in percentage of subjects underweight. This tendency of increasing percentage of underweight was more significant in the infant period than the toddler period. (2) by height value, no significant differences between each mother's age group were found. c) When the nutritional status of each child according to the birth rank, i. e., lower birth rank (first to third) and higher birth rank (fourth or above) was classified (1) by weight value, children of higher birth rank were slightly more often underweight than those of lower birth rank, but not significant. (2) by height value, no differences were found between children of lower and higher birth rank. 2) Gomez Classification: When the nutritional status of each child was classified a) by body weight value, the percentages for male and female of children. attained standard growth were 53.1% (infant 82.6%, toddler 44.9%) and 39.2% (infant 73.4%, toddler 30.1%), the first degree of malnutrition were 39.4% (infant 14.7%, toddler 46.2%) and 47.1% (infant 21.9%, toddler 53.8%), the second degree of malnutrition were 7.3%(infant 2.3%, toddler 8.6%) and 12.9% (infant 4.0%, toddler 15.2%). and the third degree of malnutrition were 0.2%. (infant 0.3%, toddler 0.2%) and 0.8% (infant 0.7%, toddler 0.9%) respectively. b) by height value, the percentages for male and female of children attained standard growth were 80.8% (infant 97.0%, toddler 76.3%) and 73.8%(infant 95.6%, toddler 68.0%), the first degree of malnutrition were 18.5% (infant 2.7%, toddler 22.9%) and 24.6% (infant 4.4%, toddler 30.0%), the second degree of malnutrition were 0.6%(infant 0.3%, toddler 0.7%) and 0.5% (infant 0.1%, toddler 0.7%), and the third degree of malnutrition were 0.1%(infant 0%, toddler 0.1%) and 1.1% (infant 0%, toddler 1.3%) respectively. C. Results of clinical laboratory examination: 1) Red blood cells: The ranges of mean red blood cell counts for male and female were $3,538,000/mm^3\;to\;4,403,000/mm^3\;and\;3,576,000/mm^3\;to\;4,483,000/mm^3$ respectively. The lowest red cell counts were seen at the age of 0-3 months for male and 1-2 months for female. 2) Haematocrit value : The ranges of haematocrit value of male and female were 35.1% to 38.8% and 34.7% to 38.8% respectively. The lowest haematocrit values were seen at the age of 2-3 months for male and 1-2, months for female. 3) The prevalence rates of intestinal parasites for male and female children with Ascaris lumbricoides were 34.1% (infant 18.8%, toddler 38.1%) and 36.0%(infant 18.4%, toddler 40.7%), with Trichocephalus trichiuris were 6.8% (infant 2.9%, toddler 7.9%) and 9.0% (infant 3.0%, toddler 10.6%), with Hookworm were 0.3% (infant 0.5%, toddler 0.2%) and 0.3% (infant 0.5%, toddler 0.3%), with Clonorchis sinensis were 0.4%(infant 0%, toddler 0.5%) and 0.1%(infant 0%, toddler 0.1%) respectively.

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Studies on the Breeding of the Response to short photoperiod, Fiber weight, and Qualitative characters and of the Associations Among these characters in Kenaf (섬유용양마의 육종에 관한 연구 -단일반응성과 섬유종의 유전 및 연소)

  • Johng-Moon Park
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.4 no.1
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    • pp.115-124
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    • 1968
  • It was shown that the most desirable characters for kenaf are high-fiber weight and moderately early maturity. Therefore, the objectives of this research on this crop is to find varieties possessing these characteristics. The experiments covered in this report provided new information relative to segregation, mode of inheritance, estimate of the number of genes involved in fiber weight and their response to short day length of 10 hours and the qualitative characters, such as, color of stem, capsule, petiole and shape of leaves. The associations which exist among these characters are also indicated. Fiber weight per plant, days to flowering, Stem color, Petiole color, Capsule color, and shape of leaves were studied in parental, $F_1$.$F_2$and backcross populations of a cross between Dashkent, a low-fiber weight but early maturing kenaf variety, and G 38 F-1, a high-fiber weight but late maturing kenaf variety. Crosses were made using the varieties, Dashkent and G 38 F-1 as parents. The Dashkent parent had the following characteristics: green stems, capsules and petioles and lobed shaped leaves; 105.8234 mean-days to flowering in the field, and 106.9222 mean-days under 10 hours short day treatment. The other parent, G 38 F-1 had red stems yellow capsules and red petioles and unlobed shaped leaves; 149.8921 mean-days to flowering in the field, and 62.3684 mean-days under 10 hours short day treatment. Both of the parents, $F_1$, $F_2$, $BC_1$ ($F_1$ X Dashkent, ) and $BC_2$($F_1$ ${\times}$ G38F-1) of the kenaf cross were grown at the Crops Experiment Station, Suwon, Korea in 1965. Color of stems, petioles and capsules, and shape of leaves were noted to be simply inherited as a single factor. Red stem color was dominant over green stem color, red petiole color was dominant over green petiole, lobed shaped leaves were dominant over unlobed shaped leaves and yellow capsules were dominant over green capsule. It was, also, noted that the factor for color of petiole was linked with the factor for shape of leaf with a 11.9587 percent recombination value, however no interaction or linkage were found among the color of stem and capsule color. Using Powers partitioning method, theoretical means and frequency distributions for each population, the days to flowering were calculated with the assumption that two gene pairs were involved. The values obtained fitted the theoretical values. In general this would indicate that Dashkent and G 38 F -1 were differentiated by two gene pairs. Heritability values were calculated as the percent of additive genetic variance. Heritability value of days to flowering, 89.5% in the broad sense and 79.91% in the narrow sense, indicated that the selection for this character would be effective in relatively early generations. Particularly, high positive correlations were found between days to flowering and the color of petioles and shape of leaves. However, there was no relation between days to flowering and capsule color nor between these and stem color. On the basis of the results of this experiment there is evidence that the hereditary factor for shape of leaves and the color of petioles is linked with an effective factor or factors for the characters of days to flowering. The association was sufficiently close to offer a possible simple and efficient means of selection for moderately early mat. uring plants by leaf shape and petiole color selection. Again using Powers partitioning method the frequency distribution for each population to the fiber weight were calculated with the assumption that two gene pairs, AaBb, were involved. Both phenotypic and genotypic dominance were complete. The obtained value did not agree with the theoretical value for $F_2$ and $BC_1$ ($F_1$ ${\times}$ Dashkent.) It seems that Dashkent and G 38 F-1 were differentiated by two major gene pairs but some the other minor genes are necessary. It is certain that the hereditary factor for shape of leaves and color of petioles is linked with an effective factor or factors for fiber weight. Also, high. yielding plants with moderately early maturity were found in the $F_2$ population. Thus, simultaneous selection for high-fiber yield and moderately early maturing plants should be possible in these populations. Phenotypic and genotypic correlation coefficients between fiber weight per plant and days to flowering, stem height and stem diameter were calculated. In general, genotypic correlations are higher than the phenotypic correlation. The highest correlation is found between stem height and fiber weight per plant (0.7852 in genotypic and 0.4103 in phenotypic) and between days to flowering and fiber weight per plant (0.7398 in genotypic and 0.3983 in phenotypic.) It was also expected that the selection of high stem height and moderately early maturing plants were given the efficient means of selection for high fiber weight.

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Analysis of p53 and Retinoblasoma(Rb) Gene Polymorphisms in Relation to Lung Cancer in Koreans (한국인 폐암 환자에 대한 p53 및 Rb유전자의 다형성 분석)

  • Lee, Kyung-Sang;Sohn, Jang-Won;Yang, Suck-Chul;Yoon, Ho-Joo;Shin, Dong-Ho;Park, Sung-Soo;Lee, Jung-Hee;Lee, Chun-Geun;Cho, Youl-Hee
    • Tuberculosis and Respiratory Diseases
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    • v.44 no.3
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    • pp.534-546
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    • 1997
  • Background : The p53 and retinoblastoma(Rb) tumor suppressor genes are associated with the pathogenesis of several types of human cancer. Substantial proportion of the primary lung cancers or cell lines have been reported to have the p53 and/or the Rb gene mutations. But, so far there is no report on the analysis of the Rb gene polymorphism as one of the genetic susceptibility marker. This study was undertaken to establish the gene frequencies of the polymorphic genotypes of the p53 and Rb genes in Koreans to evaluate the possible involvement of these genotypes as a risk factor of lung cancer. Methods : In this study 145 controls without previous and present tumor history and 128 lung cancer patients were subjected to analysis. The two intragenic polymorphisms of the p53 gene(exon 4/ AccII, intron 6/MspI) and one intron 17/XbaI polymorphism of the Rb gene were analysed by the method of polymersae chain reaction- restriction fragment length polymorphisms(PCR-RFLPs). The genotype of the intron 3/16 bp repeat polymorphism of p53 was determined by PCR and direct gel electrophoresis. Results : There were no significant differences in the genotype distributions of the p53 gene between lung cancer patients and controls. But heterozygotes(Arg/Pro) of the exon 4/AccII polymorphisms were slightly over-represented than controls, especially in the Kreyberg type I cancer, which was known to be associated with smoking. The intron 3/16 bp duplication and the intron 6/MspI polymorphisms were in complete linkage disequilibrium. About 95% of the individuals were homozygotes of the common alleles both in the 16 duplication and MspI polymorphisms, and no differences were deteced in the genotype distributions between lung cancer patients and controls. Overall genotype distributions of the Rb gene polymorphisms between lung cancer patients and controls were not significantly different However, the genotype distributions in the Kreyberg type I cancer were significantly different from those of controls(p = 0.0297) or adenocarcinomas(p = 0.0008). It was noticeable that 73.4% of the patients with adenocarcinomas were heterozygotes(r1/r2) whereas 39.2% of the Kreyberg type I cancer were heterozygous at this polymorphisms. In the lung cancer patients, significant differences were also noted between the high dose smokers and low dose smokers including non-smokers(p = 0.0258). The relative risk to Kreyberg type I cancer was significantly reduced in the individuals with the genotype of r1/r2(odds ratio = 0.46, 95% C.I. = 0.25-0.86, p = 0.0124). The combined genotype distribution of the exon 4 AccII of the p53 and the intron 17 Rb gene polymorphisms in Kreyberg type I cancers were significantly different from dose of controls or adenocarcinomas. The highest odds ratio were observed in the individuals with the genotypes of Arg/Pro and r2/r2(odds ratio = 1.97,95% C.I. = 0.84-4.59) and lowest one was in the patients with Arg/Arg, r1/r2 genotype(odds ratio = 0.54, 95% C.I. = 0.25-1.14). Conclusion : The p53 and the Rb gene polymorphisms modulate the risk of smoking induced lung cancer development in Koeans. However, the exact mechanism of risk modulation by these polymorphism remains to be determined. For more discrete clarification of associations between specific genotypes and lung cancer risk, the evaluations of these polymorphisms in other ethnics and more number of patients will be needed.

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