• Korean Journal of Poultry Science
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• v.43 no.4
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• pp.273-279
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• 2016

Recently, it was reported that certain polymorphisms in the growth hormone secretagogue receptor gene (GHSR) are associated with the growth of chickens. However, the correlation between GHSR polymorphisms and economic traits has not been investigated in Korean native chickens (KNCs). Therefore, the objective of this study was to confirm the suitability of the GHSR gene as a candidate for genomic selection and identify a genetic marker for KNCs. A total of 220 KNCs from six breeds raised at the National Institute of Animal Science were genotyped for the c.739+726 SNP in the GHSR gene using polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP), and the sequence for a subset of 30 birds was analyzed using direct sequencing. The association between the SNP genotypes and the economic traits of the KNCs was analyzed using the statistical package for the social science (SPSS) software program. The association analysis between the c.739+726T>C SNP and economic traits revealed that the SNP was significantly associated with body weight at 150 and 270 days (BW150 and BW270, respectively) in all KNCs (p<0.01), BW150 in KNC (Gary) (p<0.05), and egg production number in KNC (White, p<0.05). In addition, the SNPs discovered using direct sequencing (513A>G, 517A>T) had a significant effect on the body weight and egg production traits (p<0.05). In conclusion, these results might be useful as a basis for studies on the improvement of KNC breeds. Furthermore, these results suggest that the SNPs (c.739+726T>C, 513A>G, and 517A>T) located in the GHSR gene could be useful molecular genetic markers for KNCs.

• Journal of agricultural medicine and community health
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• v.39 no.4
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• pp.240-255
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• 2014

Objective: The purpose of this study was to identify the correlates of bone mineral density of Korean adults. Methods: This study was based on the data from the 2010-2011 Korean National Health and Nutrition Examination Survey (KNHANES, 2010~2011) V. Among 8,473 subjects of the survey, who were adults 19 years old or over with bone mineral density data, the current study excluded those whose data include a missing study variable or the response of 'I don't know', and finally analyzed the data of 5,986 subjects (2,692 males and 3,294 females). This study employed the following statistical methods of analysis: t-test, analysis of variance (ANOVA), and hierarchical multivariate linear regression analysis. Results: In multivariate analysis, in the case of men, the significant associated factors in bone mineral density were age, education level, body mass index (BMI), waist circumference, total muscle mass, exercise, and weight control; in the case of women, the significant associated factors in bone mineral density were age, education level, economic activity, BMI, total muscle mass, exercise, weight control. fat intake, uptake female hormone, menopause, and age of menarche. Conclusion: For both sexes, the strongest modifiable factor in influencing bone mineral density was total muscle mass. Therefore, to prevent osteoporosis and promote health, active health education and interventions such as regular exercise for total muscle mass increase should be implemented from an early growth period.

• Clinical and Experimental Pediatrics
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• v.48 no.7
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• pp.701-705
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• 2005

Purpose : Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their children because of imbalance in genetic information. We intent to analyze the cytogenentic and clinical features about children with maternal balanced translocation between chromosome 15 and 18. Methods : We detected by one family's FISH study of chromosome 15. We have evaluated children born to clinically normal parents about peripheral bood analysis, endocrine, metabolic, radiologic study, electroencephalogram and social & intelligence scale. and We analysis their clinical manifestation by hospital records. Results : Patient's father and elder sister are normal clinically and genetically. Her mother's chromosome show balanced translocation, 46, XX, t(15;18)(p11.2;p11.3). One child has 46, XX, der(18) t(15;18)(p11.2;p11.3), mental retardation, growth retardation, speech & social developmental delay, recurrent infection and mild mitochondria dysfunction. Her young brother has 46, XY, der(15) t(15;18) (p11.2;p11.3), mental retardation, aggressive behavior, obesity and speech developmental delay. Conclusion : In this study we observed the children with developmental delay, dysmorphic facial features, mental retardation, growth retardation associated with growth hormone deficiency and aggressive behavior due to unbalanced translocation between chromosome 15 and 18.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Clinical and Experimental Pediatrics
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• v.52 no.3
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• pp.356-363
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• 2009

Purpose : A polymorphism in the IGF-I gene promoter region is known to be associated with serum IGF-I levels, birth weight, and body length, suggesting that IGF-I gene polymorphism might influence postnatal growth. The present study aimed to investigate the role of this polymorphic cytosine-adenine (CA) repeat of the IGF-I gene in children with idiopathic short stature. Methods : The study involved 131 children (72 boys and 59 girls) diagnosed with idiopathic short stature, aged 715 years. Genomic DNA was extracted from anticoagulated peripheral whole blood. The primers were designed to cover the promoter region containing the polymorphic CA repeat. Data were analyzed using GeneMapper software. The correlations between age and serum IGF-I levels were analyzed using Spearmans correlation coefficient. Results : The CA repeat sequences ranged from 15 to 22, with 19 CA repeats the most common with an allele frequency of 40.6%. Homozygous for 19 CA repeat was 13.0%, heterozygous for 19 CA repeat was 56.5%, and 19 CA non-carrier was 30.5%. The three different genotype groups showed no significant differences in height, body weight and body mass index, and serum IGF-I levels. The serum IGF-I level and age according to the IGF-I genotypes were significantly correlated in the entire group, 19 CA repeat carrier group, and the non-carrier group. The three groups also showed no significant differences in the first year responsiveness to GH treatment. Conclusion : There were no significant different correlations between 19 CA repeat polymorphism and serum IGF-I levels according to genotype. Our results suggest that the IGF-I 19 CA repeat gene polymorphism is not functional in children with idiopathic short stature.

• Clinical and Experimental Pediatrics
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• v.51 no.8
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• pp.812-819
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• 2008

Purpose : Vitamin D plays a key role in bone mineralization of the skeleton and vitamin D deficiency can lead to rickets. It is well known that vitamin D deficiency is common in breast fed infants. Of these patients, clinically, some have no signs of rickets, but laboratory and radiographic findings are diagnostic for vitamin D deficiency rickets (subclinical vitamin D deficiency rickets). The purpose of this study is to clarify current causes and ways to prevent this disease. Methods : We reviewed the clinical and laboratory characteristics of children who were incidentally diagnosed as subclinical rickets during treatment of other disease such as pneumonia, gastroenteritis, urinary tract infection at Eulji Hospital, Seoul, Korea from March, 2003 to July 2007. Results : Eight patients (six boys and two girls) were diagnosed with subclinical vitamin D deficiency rickets. The mean age of the patients was $12.6{\pm}5.8months$, and they were diagnosed from January to July. The associated diseases were pneumonia, urinary tract infection, acute gastroenteritis, and iron deficiency anemia. All patients were breast-fed. Two showed growth failure. The mean serum alkaline phosphatase was $1995.8{\pm}739.5IU/L$, the mean calcium count was $9.5{\pm}0.6mg/dL$, and the mean phosphorus content was $3.6{\pm}1.5mg/dL$. The mean intact parathyroid hormone was $214.8{\pm}155.9pg/mL$ (reference range, 9-65), the mean 1,25-dihydroxyvitamin D was $82.4{\pm}49.3pg/mL$ (reference range, 2070), and the mean 25-hydroxyvitamin D was $29.6{\pm}10.6ng/mL$ (reference range, 1030). A radiographic examination showed cupping, fraying, and flaring of metaphyses in all patients. Six patients were administered calcitriol (400 IU/day) for three months. A consequent radiographic and laboratory examination showed improvement. The first two patients were initially diagnosed with metaphyseal dysplasia, without the detection of vitamin D deficiency and they spontaneously improved without vitamin D supplements. However, two years later, they showed mild scoliosis and metaphyseal dysplasia, respectively. Conclusion : Breast-feeding without supplementation involves high risk of vitamin D deficiency. Some infants may also develop rickets; therefore, such groups should be considered for vitamin D supplementation.