• Title/Summary/Keyword: Heterozygote male

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Effect of Taekwondo Training on Physical Fitness and Growth Index According to IGF-1 Gene Polymorphism in Children

  • Lee, Bonghan;Kim, Kijin
    • The Korean Journal of Physiology and Pharmacology
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    • v.19 no.4
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    • pp.341-347
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    • 2015
  • This study analyzed the effect of regular Taekwondo training for 16 weeks on physical fitness and growth index depending on different IGF-1 gene polymorphisms. The subjects of the study were 44 male students who were 8 year years old. The IGF-1 gene showed the highest frequency of 18 CA repeat (190 bp) in 50% of subjects, and was found in the homozygote (n=11), heterozygote (n=22) and non-carriers (n=11). The results of the physical fitness and growth index among the gene polymorphism groups indicated no significant differences but the expected height of the non-carrier group was significantly high (p<0.05). After Taekwondo training, the homozygote group and the non-carrier groups demonstrated significant (p<0.05) increase in grip strength and in time in the standing with one leg while closing eyes test, respectively. Only the homozygote group had a significant (p<0.05) increase in thigh circumference. IGF-1 concentration significantly (p<0.05) increased in the heterozygote group, while HOMA-IR significantly (p<0.05) decreased in the homozygote group. Furthermore, there was a significant (p<0.05) decrease in glucose in both the homozygote and the non-carriers groups. The difference between physical fitness and growth index depending on the IGF-1 gene polymorphism after Taekwondo training did not show consistent impact.

Comparison of UCP2 Polymorphism and Dietary Habits in University Students (대학생의 UCP2 유전자 다형성과 식습관 비교연구)

  • Kim, Kyung-Hee;Park, Mi-Won
    • Journal of the Korean Society of Food Culture
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    • v.24 no.2
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    • pp.224-235
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    • 2009
  • This study aimed to research meal quality and the dietary behaviors of college students for desirable dietary lives and provides basic data for nutritional education by examining polymorphism distribution of the UCP2 gene according to gender, by investigating attitudes in terms of their dietary habits and dietary lives, and by analyzing serum lipid levels and body composition. A survey was conducted with a total of 222 students - 93 male and 129 females. Based on a selfreporting method, the questionnaires were answered over 20 minutes, and UCP2 insertion/deletion gene polymorphism and blood samples were also analyzed. The results showed that the male students and female students had average BMI of 22.50 and $20.73\;kg/m^2$, respectively. According to answers regarding their dietary lives, 51.4% of the students showed 'irregular eating' patterns, which is regarded as something to be corrected. In terms of eating regularity, 51.6% of the male students and 59.7% of the female students had irregular meal schedules. As the most important meal of a day, 64.0% of the students answered 'breakfast' but only 53.6% answered that they ate breakfast everyday. In addition, 39.8% of the male students and 50.4% of the female students ate between meals 'once a day'. When questioned if they were satisfied with their body shape, 17.8 and 45.2% of the male students answered they were 'satisfied' or needed to 'gain weight', respectively, whereas 17.8 and 77.5% of the female students answered they were 'satisfied' or needed to 'lose weight', respectively. The results of the UCP2 gene polymorphism analysis showed that 33.7% of the males belonged to the DI heterozygote group, 64.2% belonged to the DD homozygote group, and 2.1% belonged to the II homozygote group. For the female students, 63.4% belonged to the DI heterozygote group, 35.1% belonged to the DD homozygote group, and 1.5% belonged to the II homozygote group. According to the blood and serum lipid analyses, the male students showed average HDL-cholesterol, LDL-cholesterol, and hemoglobin levels of 57.20, 93.80, and 15.00 mg/dL, respectively, while the female students presented average levels of 56.69, 102.88, and 13.13 mg/dL, respectively. In conclusion, this study found no significant effects in terms of UCP2 gene polymorphisms, but it is suggested that practical plans must be designed that allow college students to use nutritional knowledge in their daily lives, and in particular, nutrition education needs to be develop that would enable female college students to recognize their bodies appropriately and to control their weight in desirable ways.

A Case of Molecular Diagnosis of Ornithine Transcarbamylase Deficiency (분자 유전학적 검사로 진단된 Ornithine Transcarbamylase Deficiency 1 예)

  • Lee, Eun-Sil
    • Journal of Yeungnam Medical Science
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    • v.24 no.2
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    • pp.322-328
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    • 2007
  • Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle metabolism; it is inherited in an X-linked manner. The OTC catalyzes the third step of the urea cycle, the conversion of ornithine and carbamyl phosphate to citrulline. Deficiency of OTC leads to the accumulation of ammonia, causing neurological deficits. In most affected hemizygote males, OTC deficiency manifests as hyperammonemic coma that often leads to death in the newborn period, and those who recover from the coma may be neurologically impaired due to the sequelae of the hyperammonemic encephalopathy. In some, late-onset manifestations develop. We report a male neonate with early onset OT deficiency that had apnea and was comatous. On mutation analysis using DNA sequencing after polymerase chain reaction (PCR) amplification of the 10 exons, deletions of 10 bases in codon 285, causing a frame shift was detected in exon 8. The mother and a sister were diagnosed as female carriers. Therefore, genetic counseling and the risk assessment could be provided to the family.

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Breeding Cytoplasmic Male Sterile Lines Resistant to Phytophthora capsici and Ralstonia solanacearum in Capsicum Pepper (역병-풋마름병 복합저항성 세포질웅성불임계 고추 육성)

  • Lee, Jae-Moo;Kim, Byung-Soo
    • Current Research on Agriculture and Life Sciences
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    • v.28
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    • pp.39-46
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    • 2010
  • Selection procedures for breeding lines resistant to both bacterial wilt caused by Ralstonia solanacearum and Phytophthora blight caused by P. capsici were executed to generations from $F_2$ and $BC_1F_1$ to $F_4$ and $BC_1F_3$ of crosses between a Phytophthora resistant breed, 'Chilbok No. 1' and bacterial wilt resistant accessions introduced from Vietnam during 2009 and 2010. The breeding populations or lines were tested for resistance to P. capsici and resistant plants were selected. The resistant selections were inoculated with R. solanacearum to discard susceptible plants. Resistance to P. capsici was conspicuously improved by selection from $F_2$ and $BC_1F_1$ and the final selections showed a similar level of resistance to P. capsici as a commercial Phytophthora resistant cultivar, Muhanjilju. A few $BC_1F_2$ selections were crossed to a cytoplasmic male sterile line, Chilbok-A, to identify their nuclear genotype interacting with male sterile cytoplasm. Majority of them was fixed to maintainer (Nrfrf) and only two resulted segregating into male sterile and male fertile plants indicating that the pollen parents were heterozygous in the fertility-restoring gene.

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A Preliminary Population Genetic Study of an Overlooked Endemic ash, Fraxinus chiisanensis in Korea Using Allozyme Variation

  • Lee, Heung Soo;Chang, Chin-Sung;Kim, Hui;Choi, Do Yeol
    • Journal of Korean Society of Forest Science
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    • v.98 no.5
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    • pp.531-538
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    • 2009
  • We used enzyme electrophoresis to evaluate genetic diversity in five populations of endemic ash, Fraxinus chiisanensis in Korea. Of 15 putative allozyme loci examined 26.7% were polymorphic and expected heterozygosity for the species was low (0.082). Within the range, population were highly differentiated ($F_{ST}$=0.356) and little genetic variation was explained by geography. The pattern of distribution of variation showed low genetic variation within populations and pronounced divergence among populations, which was consistent with the prediction for the effects of limited gene flow and local genetic erosion. Although the frequencies of male plants were dominant ranging from 79.3% to 89.4%, most mating events seems to be inevitable mating between relatives in small populations based on heterozygote deficiency of this species. Small effective population size and the limited dispersal contributed to the low rates of gene flow within as well as between populations.

Expression and regulation of self-incompatible genes in Brassica (배추과 작물의 자가불화합성 유전자의 발현 및 조절)

  • Park, Jong-In;Lee, In-Ho;Watanabe, Masao;Nou, Ill-Sup
    • Journal of Plant Biotechnology
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    • v.37 no.2
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    • pp.186-195
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    • 2010
  • In most self-incompatible plant species, recognition of self-pollen is controlled by a single locus, termed the S-locus. The self-incompatibility (SI) system in Brassica is controlled sporophytically by multiple alleles at a single locus, designated as S, and involves cell-cell communication between male and female. Two highly polymorphic S locus genes, SLG (S locus glycoprotein) and SRK (S receptor kinase), have been identified, both of which are expressed predominantly in the stigmatic papillar cell. Gain-of-function experiments have demonstrated that SRK solely determines S haplotype-specificity of the stigma, while SLG enhances the recognition reaction of SI. The sequence analysis of the S locus genomic region of B. campestris (syn. rapa) has led to the identification of an anther-specific gene, designated as SP11/SCR, which is the male S determinant. Molecular analysis has demonstrated that the dominance relationships between S alleles in the stigma were determined by SRK itself, but not by the relative expression level. In contrast, the expression of SP11/SCR from the recessive S allele was specifically suppressed in the S heterozygote, suggesting that the dominance relationships in pollen were determined by the expression level of SP11/SCR. Furthermore, recent studies on recessive allele-specific DNA methylation of Brassica self-incompatibility alleles demonstrate that DNA methylation patterns in plants can vary temporally and spatially in each generation. In this review, we firstly present overview of self incompatibility system in Brassica and then describe dominance relationships in Brassica self- incompatibility regulated by allele-specific DNA methylation.

Production of ${\alpha}$1,3-Galactosyltransferase (GalT) Double Knock-out (-/-) Transgenic Pigs for Xenotransplantation (${\alpha}$1,3-Galactosyltransferase(GalT) 유전자가 완전 Knock-out(-/-)된 바이오장기용 형질 전환 돼지 생산)

  • Hwang, Seong-Soo;Oh, Keun-Bong;Kim, Dong-Hoon;Woo, Jea-Seok;Shim, Ho-Sup;Yun, Ik-Jin;Park, Jin-Ki;Im, Gi-Sun
    • Journal of Embryo Transfer
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    • v.27 no.1
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    • pp.9-14
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    • 2012
  • This study was conducted to analyze the transgenic efficiency and sex ratio in ${\alpha}$-1,3-galactosyltransferase (GalT) knock-out (KO) transgenic pigs according to generation. GalT KO piglets were produced by artificial insemination or natural mating. The transgenic confirmation of GalT KO was evaluated by PCR amplification using specific primers. After electrophoresis, three types of bands were detected such as 2.3 kb single band (Wild), 2.3 and 3.6kb double bands (GalT KO -/+; heterozygote), and 3.6kb single band (GalT KO -/-; homozygote). Transgenic efficiency in F1 generation was 64.5% (23/35) of GalT KO (-/+). In F2 generation, GalT KO transgenic efficiency was 36.4% (21/57, Wild), 47.5% (28/57, GalT KO -/+), and 16.1% (8/57, GalT KO -/-), respectively. Interestingly, no homozygote piglets were born in 6 deliveries among total 11 deliveries, although they were pregnant between male (M) and female (F) $F_1$ heterozygote. In the 5 litters including at least one GalT KO -/- piglet, the transgenic efficiency was 13.3% (2/24, Wild), 51.3% (14/24, GalT KO -/+), and 35.3% (8/24, GalT KO -/-), respectively. The sex ratio of M and F was 40:60 in $F_1$ and 49:51 in $F_2$ generation, respectively. Based on these results, GalT KO transgenic pigs have had a reproductive ability with a normal range of transgenic efficiency and sex ratio.

The capabilities of migration and differentiation of female primordial germ cells after transferring to male embryos

  • Lee, Young-Mok;Kim, Mi-Ah;Shin, Sang-Su;Park, Tas-Sub;Park, Hyun-Jeong;Han, Jae-Yong
    • Proceedings of the Korea Society of Poultry Science Conference
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    • 2001.11a
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    • pp.74-76
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    • 2001
  • Comparing to mammals, male bird has the homozygote ZZ and female has the heterozygote n. Therefore, the sex of fertilized eggs is defined by female chromosome constitution. Although this cytological observation had been established, the molecular and cellular mechanism of germ cell differentiation are essentially unknown in aves. Especially, the differentiation of germ cells in mixed-sex chimeras has not yet been clearly elucidated. Primordial germ cells, which are the progenitors of sperm or egg after sexual maturity, firstly arise in the epiblast and migrate to embryonic gonads through the blood vessel. During the embryo development, these PGCs differentiate in the pathway of mate or female, respectively and develop the sperm or egg cells after sexual maturity. In this paper, we confirmed that the female PGCs could migrate into the recipient male gonads after transferring and differentiate into germ cells in the embryonic stages. The primordial germ cells were isolated from the female embryonic gonads of 5.5-day-old incubation and re-injected into the male recipient embryos of 2-day-old incubation, which produced mixed-sex chimera in the germline. The finding in this study demonstrated the ability of migration and differentiation of gonadal primordial germ cells in mixed-sex chicken.

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Relationship between Alcohol Withdrawal Symptoms and Dopaminergic Gene Polymorphisms(DRD2, DAT, COMT) in Alcohol Dependence Patients (알코올 의존 환자의 금단 증상에 영향을 미치는 도파민계(DRD2, DAT, COMT) 유전자 다형성)

  • Choi, Tai Young;Kim, Ho-Nam;Han, Doug-Hyun;Min, Kyung-Jun;Lee, Young-Sik;Na, Chul
    • Korean Journal of Biological Psychiatry
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    • v.13 no.3
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    • pp.178-190
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    • 2006
  • Objectives : We investigated the relationship of the alcohol withdrawal symptoms with genetic polymorphism among alcohol dependence patients. Method : The measuring instruments used in this study were the Clinical Institute Withdrawal Assessment for Alcohol(CIWA-Ar). We analyzed DRD2 TaqI A polymorphism, dopamine transporter(DAT 1) polymorphism, and catechol-O-methyltransferase(COMT) polymorphism in 108 male alcoholics and 76 healthy controls. Results : The major findings was as follows. No significant differences for genotype distribution or allele frequency were revealed comparing controls and alcoholic patients. DRD2 Taq I : The subscale score of auditory hallucination among CIWA-Ar scale in homozygote was significantly higher than in heterozygote(OR=1.34). The total score of CIWA-Ar scale in heterozygote was significantly higher than in homozygote. DAT1 : In the subject without DAT-9 gene allele, it was significantly higher of the subscale score of sweating, anxiety among CIWA-Ar scale than in the subject with DAT-9 gene allele. And The total score of CIWA-Ar scale in the subject without DAT-9 gene allele was significantly higher than in the subject with DAT-9 gene allele. COMT : The total score of CIWA-Ar scale in heterozygote was significantly higher than in homozygote. Conclusion : Our results suggest the relationship between specific genetic factors and the withdrawal symptoms of alcohol dependent patients. As the candidate gene of the severity of alcohol withdrawal syndrome, DRD2 Taq1 gene was recommended.

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A sclerosing stromal tumor of the ovary with masculinization in a premenarchal girl

  • Park, Soo-Min;Kim, Young-Nam;Woo, Young-Jong;Choi, Ho-Sun;Lee, Ji-Shin;Heo, Suk-Hee;Kim, Chan-Jong
    • Clinical and Experimental Pediatrics
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    • v.54 no.5
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    • pp.224-227
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    • 2011
  • A sclerosing stromal tumor of the ovary is an extremely rare benign tumor; it usually is found during the second and third decades of life. Patients present with pelvic pain or a palpable abdominal mass. Hormonal effects such as masculinization are uncommon. Here, an 11-year old premenarchal girl presented with deepening of the voice. In addition, clitoromegaly and hirsutism with a male suprapubic hair pattern were observed. The laboratory findings showed that the testosterone level was elevated to 3.67 ng/ml, andostenedione to above 10 ng/ml, dehydroepiandrosterone-sulfate to 346 ${\mu}g$/dl and 17-hydroxy progesterone (17-OHP) to 11.28 ng/ml. The chromosome evaluation revealed a 46,XX female karyotype. An adrenocorticotropic hormone stimulation test was performed. The 17-OHP to cortisol ratio in 30 minutes was 0.045, which suggested a heterozygote for the 21-hydroxylase deficiency. However, the CYP21A2 gene encoding steroid 21-hydroxylase showed normal. The pelvic ultrasound showed a heterogeneous mass consisting of predominantly solid tissue in the pelvic cavity. The pelvic magnetic resonance imaging revealed an $8.9{\times}6.2{\times}6.6$ cm mass of the left ovary. A left oophrectomy was performed and microscopic examination confirmed a sclerosing stromal tumor. Immunohistochemical studies showed that the tumor was positive for smooth muscle actin and vimentin, but negative for S-100 protein and cytokeratin. Following surgery, the hormone levels returned to the normal range and the hirsutism resolved.