• 대한한방소아과학회지
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• 제21권2호
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• pp.51-67
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• 2007

Objectives The study was designed to find out the relationships between short stature and low weight among children and teenagers. Methods This research was performed in 21 children and teenagers from August 2006 to June 2007. We measured height, weight, body mass index, obesity rare, bone age, and HTMA. Moreover, we analyzed correlation with height, weight, mineral concentrations and ratios obtained from HTMA. Results There were significant correlations between HTMA and short stature and low weight. 1. Most subjects(76%) had slow metabolic types. 2. Ca, Mg, Zn, Ca/P, and Cr had significant differences between high bone age group and high chronological age group. 3. Fe/Cu had significant differences between a group that recent height is more smaller than inherited height and a group that recent height is more taller than inherited height. 4. Ca, Mg, Ca/P had significant differences between a low weight group and a normal weight group classified by obesity rate. Conclusions Children and teenagers with short stature and low weight have specific mineral characters.

• 한국연초학회지
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• 제11권2호
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• pp.157-179
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• 1989

This Study was conducted to estimate the degree of dominance and gene frequency of some sueful characters in tobacco. The eight parents and a set of 28 crosses of F'1s was F'2s were used as materials, and planted on oriental's and burley cultivated system as randomized block designs, respectively. The observed characters were six agronomic characters which were plant height, number of leaves per plant, leaf length, leaf width, days to flowering and yield, and the data obtained from the experiment were analyzed from methods by Hayman's and Jinks. The results obtained are summarized as follows: 1. In Vr-Wr graphical analysis, number of leaves per plant, leaf length, days to flowering and yield were found to be inherited in partial dominance, and plant height was over dominance to be similar to complete dominance, but leaf width was inherited with partial dominance close to complete dominance. 2. In the gene frequency, two varieties Xanthi-Basma and KA 102, for days to flowering and yield had larger number of dominant genes as those were situated near the point of origen. 3. Additive effects of genes(D) were greater than dominance effects of Genes(H) for six agronomic characters except plant height, and mean degree of dominance over all loci was lower than 1 for days to flowering yield, leaf length and number of leaves per plant.

• 한국연초학회지
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• 제9권1호
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• pp.45-55
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• 1987

For some basic information in tobacco breeding, the modes of inheritance and heritabilities for the twelve agronomic and chemical characters were estimated in the study of eight varieties partial diallel set. Additive gene actions were significant for all characters except total nitrogen content and dominance gene effects were also significant for all characters. Yield, number of leaves per plant, leaf length and leaf shape index were inherited as partial dominance, and overdominance was detected for plant height, stem diameter, internode length, total alkaloid, total nitrogen and total sugar content. Dominant gene showed increasing effects in yield, plant height, stem diameter, internode length, leaf width and total sugar content, but showed decreasing effects in the other characters. The broad heritability was very high for all characters. and the narrow heritability was high in days to flower and yield, but low in internode length, total alkaloid, total nitrogen and total sugar content.

• 한방비만학회지
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• 제12권1호
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• pp.9-19
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• 2012

Objectives This study was designed to find out the relationships between obesity and growth, skeletal maturity among children by analyzing body composition and bone age. Methods Subjects were composed of 577 children from six years to seventeen years of age, without any other diseases related to growth, were measured their body composition and bone age. Results As obesity index was increased, the RH-MPH(%) and skeletal maturity significantly was also increased. The RH-MPH(%) of the obesity group was significantly increased than that of normal weight group; the skeletal maturity was more increased in th obesity group. It means the recent height of obese children was more taller than that of inherited from the parents, while skeletal maturity of obese children was more rapidly progressing. The RH-MPH(%) was increased in children who revealed stage of second sexual character; skeletal maturity was decreased in children who developed secondary sexual character. Conclusions Obesity children might be taller than what it supposed to be. However, obesity could cause the increase of skeletal maturity. It means the growth plate of obese children has been closed early.

• Journal of Crop Science and Biotechnology
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• 제11권3호
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• pp.171-176
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• 2008

The agronomic traits, such as days to flowering and maturity, plant height, 100-seed weight and seed filling period, are quantitatively inherited and important characters in soybean(Glycine max L. Merr.). A total of 126 $F_5$ recombinant inbred lines(RILs) developed from the cross of PI 171451$\times$Hwaeomputkong were used to identify quantitative trait loci(QTLs) for days to flowering(FD), days to maturity(MD), plant height(PH), 100-seed weight(SW), number of branches(NB) and seed filling period(FP). A total of 136 simple sequence repeat(SSR) markers segregated in a RIL population were distributed over 20 linkage groups(LGs), covering 1073.9 cM of the soybean genome with the average distance between adjacent markers of 7.9 cM. Five independent QTLs were identified for FD, three for MD, two for PH, three for SW, one for NB and one for FP. Of these, three QTLs were related to more than two traits of FD, MD, PH, NB and FP and mapped near the same positions on LGs H and O. Thus, these traits could be correlated with biologically controlled major QTLs in this soybean RIL population.

• 대한유전성대사질환학회지
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• 제2권1호
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• pp.89-94
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• 2002

목 적 : 한국에서 처음 개발된 페닐케톤뇨증 소아를 위한 특수분유를 1년간 섭취시켜 발달양상 및 치료결과를 관찰하여 효율성과 안정성을 확인하고자 하였다. 방 법 : 순천향대학병원에서 페닐케톤뇨증으로 진찰된 소아 14명을 대상으로 1년간 수유하면서 식이 일기 평가, 혈장 아미노산 분석, 일반혈액검사, ferritin, 간기능검사, 소변검사를 시행하였다. 결 과 : 14명 모두 잘 먹었으며 신장, 체중, 두위는 모두 정상발육을 보였다. 혈색소는 모두 정상범위였다. 14례중 4례에서 ferritin 치가 12 ng/mL 이하여서 철분체제를 투여하였다. 알부민 치, S-GOT, S-GPT 소변검사는 모두 정상이었다. 페닐알라닌 치는 0.7-15.6 mg/dL로 대부분 정상 범위로 잘 유지되었다. 발진, 설사, 변비 등의 부작용은 관찰되지 않았다. 결 론 : 국내에서 처음 개발된 PKU-1과 PKU-2 Formula의 발육양상과 치료 결과가 좋은 것으로 확인되어 환자에게 안심하고 사용할 수 있는 우수한 제품으로 사료된다.

• Journal of Genetic Medicine
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• 제19권1호
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• pp.32-37
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• 2022

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase B due to mutations in the ARSB gene. Here, we report the case of a Korean female with a novel variant of MPS VI. A Korean female aged 5 years and 8 months, who is the only child of a healthy non-consanguineous Korean couple, presented at our hospital for severe short stature. She had a medical history of umbilical hernia and recurrent otitis media. Her symptoms included snoring and mouth breathing. Subtle dysmorphic features, including mild coarse face, joint contracture, hepatomegaly, and limited range of joint motion, were identified. Radiography revealed deformities, suggesting skeletal dysplasia. Growth hormone (GH) provocation tests revealed complete GH deficiency. Targeted exome sequencing revealed compound heterozygous mutations in the ARSB genes c.512G>A (p.Gly171Asp; a pathogenic variant inherited from her father) and c.1157C>T (p.Ser386Phe; a novel variant inherited from her mother in familial genetic testing). Quantitative tests revealed increased urine glycosaminoglycan (GAG) levels and decreased enzyme activity of arylsulfatase B. While on enzyme replacement therapy and GH therapy, her height increased drastically; her coarse face, joint contracture, snoring, and obstructive sleep apnea improved; urine GAG decreased; and left ventricular mass index was remarkably decreased. We report a novel variant-c.1157C>T (p.Ser386Phe)-of the ARSB gene in a patient with MPS VI; these findings will expand our knowledge of its clinical spectrum and molecular mechanisms.

• 대한유전성대사질환학회지
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• 제23권2호
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• pp.31-38
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• 2023

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by a deficiency in branched chain α-keto acid dehydrogenase (BCKAD). Between 1997, when Korea's MSUD case was first reported, and 2023, 14 cases were reported in the literature. 29% of the cases experienced developmental delay, and 29% expired. The prevalence of MSUD in Korea was estimated to be 1 in 230,000. Of 21 MSUD patients currently being treated at the Korea Genetics Research Center, 19 were detected through newborn screening program, and 2 were diagnosed by the symptoms. 14 MSUD patients had confirmed genetic mutations; 6 (43%) were BCKDHA and 8 (57%) were BCKDHB. In one case, a large deletion was observed. 4 patients had leucine levels above 2,000 (umo/L), and post-dialysis diet therapy was initiated in the newborn period. No patient required further dialysis as diet therapy and regular monitoring proved highly effective. Most MSUD patients were growing normally; weight and height growth were above the 50th percentile in 76% of the cases while BMI values were higher than normal in 71% of cases. Developmental delays were observed only in 2 cases (10%) and anticonvulsant use in 3 cases (14%). With newborn screening available to all Korean infants, early diagnosis and intervention should allow most patients to remain asymptomatic. However, ongoing surveillance, dietary management and continued patient compliance as well as rapid correction of acute metabolic decompensations remain critical to a favorable long-term prognosis.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.41-45
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• 2016

Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component of the connective tissues. A 10-year-old girl visited our hospital with the chief complaint of precocious puberty. According to her medical history, she had a pulmonary wedge resection for a pneumothorax at 9 years of age. There was no family history of MFS. Mid parental height was 161.5 cm. The patient's height was 162 cm (>97th percentile), and her weight was 40 kg (75th-90th percentile). At the time of initial presentation, her bone age was approximately 11 years. From the ophthalmologic examination, there were no abnormal findings except myopia. There was no wrist sign. At the age of 14 years, she revisited the hospital with the chief complaint of scoliosis. Her height and weight were 170 cm and 50 kg, respectively, and she had arachnodactyly and wrist sign. We performed an echocardiograph and a test for the FBN1 gene mutation with direct sequencing of 65 coding exons, suspecting MFS. There were no cardiac abnormalities including mitral valve prolapse. A cytosine residue deletion in exon 7 (c.660delC) was detected. This is a novel mutation causing a frameshift in protein synthesis and predicted to create a premature stop codon. We report the case of a patient with MFS with a novel FBN1 gene missense mutation and a history of pneumothorax at a young age without cardiac abnormalities during her teenage years.

• 한국작물학회지
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• 제1권1호
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• pp.42-45
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• 1963

In a plant breeding program, an efficient selection of desired characters in a population is important. Generally, many agronomic characters in a given population are determined by polygenes and quantitatively inherited. In practice, the genetic relationship between two observed characters which are undoubtedly subjected to the environmental influence is difficult to identify. In recent years, many workers have attempted to understant the genetic relationship between characters in terms of genotypic correlation, and the knowledge thus gained should furnish many important and useful information for the planning of breeding, selection, and interpretation of the result. The genotypic correlation is the result of pleiotropy, linkage of genes(2, 3, 5, 6, 8) and natural or artificial selection(4). The purposes of this study were to estimate genotyric and phenotypic correlations between all possible pairs of nine characters. and to seek certain characters which may be useful as indicators of certain important agronomic characters. Weber and Moorthy(10), Johnson et al. (5) and Sheth(7) found that in general, the genotypic correlations were higher than the phenotypic correlations. Weiss et al. (11) obtained significant positive correlations between maturity and oil content, maturity and low protein content, and high protein content and low oil content. Weber and Moorthy(10) reported the positive genotypic correlations between flowering and maturity, yield and maturity, yield and plant height, yield and seed weight, and negative genotypic correlations between maturity and oil content, and oil content and seed weight. Johnson et al. (5) studied the genotypic and phenotypic correlations among 24 characters and concluded that selection based entirely on a long fruiting period, lateness, heavy seed, low protein, high oil and resistance to lodging would be effective in increasing yield. Sheth(7) found the following positive associations among characters; height and maturity, yield and lodging, low protein content and high oil content, and yield and low protein content. Hanson et al.(1) also reported high negative correlation between seed yield and protein content.