• Archives of Plastic Surgery
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• v.39 no.4
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• pp.329-332
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• 2012

Background Ankyloglossia or tongue-tie is a congenital anomaly characterized by an abnormally short lingual frenum. Its prevalence in the newborn population is approximately 4%. Its mode of inheritance has been studied in some articles, but no conclusion has been established. Also, no relevant report has been published in Korea. This study was conducted to elucidate the genetic inheritance of ankyloglossia via pedigree analysis. Methods In this study, 149 patients with no other congenital anomaly who underwent frenuloplasty between March 2001 and March 2010 were studied. Pedigrees were made via pre- or post-operative history taking, and patients with uncertain histories were excluded. In the patient group that showed a hereditary nature, the male-to-female ratio, inheritance rate, and pattern of inheritance were investigated. Results One hundred (67.11%) of the patients were male and 49 (32.89%) were female (male-female ratio=2.04:1). Ninety-one (61.07%) patients reported no other relative with ankyloglossia, and 58 (38.93%) patients had a relative with this disease. The inheritance rate was 20.69% in the 58 cases with a hereditary nature. In the group with no family history of ankyloglossia, the male-female ratio was 3.79:1, which significantly differed from that of the group with a family history of ankyloglossia. X-chromosome mediated inheritance and variation in the gene expression was revealed in the pedigree drawn for the groups with hereditary ankyloglossia. Conclusions Ankyloglossia has a significant hereditary nature. Our data suggest X-linked inheritance. This study with 149 patients, the first in Korea, showed X-linked inheritance in patients with a sole anomaly.

• Childhood Kidney Diseases
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• v.26 no.2
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• pp.107-110
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• 2022

Nephrogenic diabetes insipidus, decreased ability to concentrate urine, with production of large amounts of urine, is caused by the refractory response of renal tubules to the action of antidiuretic hormone. This rare disorder, known as X-linked nephrogenic diabetes insipidus, is caused by a mutation in the AVPR2 gene. Because it is hereditary, most patients are male. This report highlights a case of nephrogenic diabetes insipidus in a 3-year 5-month-old female; upon presentation to the hospital, her symptoms included frequent urinationand consumptionof a significant amount ofwater,which had begun2 years ago. The results of blood tests showed increased levels of serum antidiuretic hormone, and sellar magnetic resonance imaging showed no abnormality. The results of the water restriction test and the desmopressin administration test confirmed the diagnosis of nephrogenic diabetes insipidus showing a partial response to desmopressin. The results of genetic testing indicated the presence of an AVPR2 mutation, a heterozygous missense mutation (p.Val88Met), suggesting inheritance of X-linked nephrogenic diabetes insipidus. This report describes a significant case of symptomaticX-linked nephrogenic diabetes insipidus in a female patient who showed a partial response to desmopressin.

• Journal of Korean Society of Forest Science
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• v.64 no.1
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• pp.20-25
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• 1984

The inheritance of isoenzymes in young coat tissues of trembling aspen (Populus tremuloides Michx.) was studied by electrophoretically analysing five parental clones and their full-sib progenies obtained by crossing one female clone to four male clones. The distal 2cm section of vigorous young roots of 70 seedlings per family were subjected to horizontal starch gel electrophoresis. The resulting gels were tested for activity of 7 enzyme systems. Evidences for the inheritance of isoenzymes observed indicated that the isoenzyme variants of every isoenzyme zone were under control of codominant alleles at a single locus. Chi-square test of joint segregation data of the two loci, 6-PGD-2 and PGI-2, indicated that the pair of loci was not linked.

• International Journal of Industrial Entomology and Biomaterials
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• v.7 no.1
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• pp.15-20
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• 2003

The present investigation was carried out to study the possible cause for reciprocal difference in silkworm hybrids. By utilising the polyvoltine race Pure Mysore (PM) and newly evolved breeds (CSR2, CSR5, CSR16 and CSR17), the direct and reciprocal crosses of polyvoltine ${\times}$ bivoltine and also bivoltine hybrids were studied. The hybrids of polyvoltine ${\times}$ bivoltine (direct) are superior to their reciprocal crosses in respect of cocoon yield, cocoon weight and filament length. The reciprocal crosses of polyvoltine ${\times}$ bivoltine are superior to their direct crosses in respect of fecundity and short larval duration. No significant differences were observed in the characters like cocoon shell ratio, raw silk percentage, denier, reelability and neatness in both polyvoltine ${\times}$ bivoltine direct crosses and their reciprocals. The expression of cocoon characters as a function of sex revealed that direct crosses (polyvoltine ${\times}$ bivoltine) showed higher cocoon weight, pupal weight, shell weight and longer filament length in females than the reciprocal crosses (bivoltine ${\times}$ polyvoltine), where as these characters in males were almost the same in both direct and reciprocal crosses, indicating that the sex-linked genetic factor played a more important role. it was clear that difference in cocoon yield observed in reciprocal crosses of polyvoltine ${\times}$ bivoltine was due to the low cocoon and shell weight in females which was turn due to presence of early maturity genes (Lme) linked with sex-chromosome (X) which effect on larvae period of the silkworm. In bivoltine hybrids, i.e., both direct and their reciprocals crosses, all the characters viz., hatching percentage, larval duration, survival, cocoon weight, cocoon shell weight, cocoon shell ratio, raw silk percentage, filament length, denier, reelability and neatness did not show any significant difference (except number of eggs laid by moth) which could account for presence of same maturity genes (Lm) in both direct and reciprocal crosses. it was clear that reciprocal differences occur when the hybrids are prepared from the parental strains with different voltinism.

• Journal of Crop Science and Biotechnology
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• v.11 no.3
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• pp.177-180
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• 2008

Worldwide, cyst nematode(Heterodera glycines Ichinohe) is the most destructive pathogen of cultivated soybean. In the USA, current annual yield losses are estimated to be nearly a billion dollars. Crop losses are primarily reduced by the use of resistant cultivars. Nematode populations are variable and have adapted to reproduce on resistant cultivars over time because resistance primarily traces to two soybean accessions. It is important to use diverse resistance sources to develop new nematode resistant cultivars. Soybean PI 494182 is a recent introduction from Japan and found to be resistant to multiple nematode populations. It is yellow seeded and maturity group 0. We have determined inheritance of resistance in PI 494182 using $F_{2:3}$ families derived from cross PI 494182 X cv. Skylla. Skylla is a susceptible parent. Three nematode populations, races 1, 3, and 5, corresponding to HG types 2.5.7, 0, and 2.5.7 were used to bioassay 162 $F_{2:3}$ families in greenhouse experiments. Based on Chi-square tests, a two-gene model is proposed for resistance to race 1 and a three-gene model is proposed for conditioning resistance to both races 3 and 5. Correlation coefficient analysis indicated that some genes conditioning resistance to races 1, 3, and 5 are shared or closely linked with each other. These results will be useful to soybean breeders for developing soybean cultivars for broad resistance to nematodes.

• Childhood Kidney Diseases
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• v.27 no.2
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• pp.70-75
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• 2023

Dent disease is a rare inherited kidney tubulopathy caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes, and which is often underdiagnosed in practice. A diagnosis is clinically suspected in patients with low-molecular-weight proteinuria, hypercalciuria, and one of the following: hematuria, nephrolithiasis, nephrocalcinosis, hypophosphatemia, or chronic kidney disease. Inheritance is X-linked recessive, meaning, these symptoms are generally only found in males; female carriers may have mild phenotypes. Genetic testing is only a method to confirm the diagnosis, approximately 25% to 35% of patients have neither the CLCN5 nor OCRL1 pathogenic variants (Dent disease 3), making diagnosis more challenging. The genotype-phenotype correlations are not evident with the limited clinical data available. As with many other genetic diseases, the management of patients with Dent disease concentrates on symptom relief rather than any causative process. The current treatments are mainly supportive to reduce hypercalciuria and prevent nephrolithiasis. Chronic kidney disease progresses to end-stage between the ages of the third to fifth decades in 30% to 80% of affected males. In this review, we aimed to summarize the literature on Dent disease and reveal the clinical characteristics and molecular basis of Korean patients with Dent disease.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.13-16
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• 2018

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.

• Clinical and Experimental Pediatrics
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• v.46 no.10
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• pp.1044-1046
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• 2003

Craniofrontonasal dysplasia(CFND), a rare congenital syndrome, is characterized by varying degrees of frontonasal dysplasia, craniosynostosis, and variable extracranial abnormalities. It was first reported by Cohen in 1979. The inheritance pattern is not straightforward. Although all modes of Mendelian inheritance have been suggested, the most plausible explanation is that this is an X-linked condition with the unusual situation of complete expression in females, and minimal to no expression in males. In our case, CFND was diagnosed in a female neonate who had unilateral coronal craniosynostosis, frontal bossing, orbital hypertelorism, broad nasal root, clefting nasal tip, corpus callosum agenesis and mild extremity abnormalities.

• Korean Journal of Plant Tissue Culture
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• v.27 no.5
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• pp.359-366
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• 2000

Epigenetics represents a chromatin-mediated transcriptional repression which plays a control role in both animal and plant development. A number of different mechanisms have been described to be involved in the formation of chromatin structure: especially DNA methylation, nucleosomal histone modification, DNA replication timing, and binding of chromatin remodelling proteins. Epigenetic phenomena include genomic imprinting, dosage compensation of X-chromosome linked genes, mutual allelic interactions, paramutation, transvection, silencing of invasive DNA sequences, etc. They are often unstable and inherited in a non-Mendelian way. A number of epigenetic defects has been preferentially described in floral development. Here, epigenetic phenomena in model angiosperm plants and their corresponding mechanisms are reviewed.

• The Korean Journal of Nuclear Medicine
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• v.23 no.1
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• pp.1-6
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• 1989

The occurrence of thyroid disorders is connected with iodine deficiency, defective synthesis or releasing of thyroid hormone and endemicity. Genetic factors are known as a single gene defects, interaction of multiple genes with environmental factors, as well as chromosomal aberrations. Diofnosis thyroid disorders is enforced by I-131 uptake test, thyroid scanning with I-131 or Tc-99 m and serum radioimmunoassays of T3, T4, free T4 and TSH. They were largely classified as hypothyroidism, hyperthyroidism, simple goiter and normal. The pedigree of 58 families was drawn by propositus, and then the correlation between thyroid disorders and TSH levels was analyzed. The results are as follows: 1) The offsprings and their mothers of 15 families were hypothyroidism, THS level was 5 folds for offsprings and 4 folds for mothers in comparison with control group. 2) 13 families were hyperthyyroidism in siblings but their mothers were normal in thyroid function, TSH level of the siblings was lower than control group. 3) Though the offsprings and their mothers of 10 families were similar to TSH level of control group, they are all simple goiter, familial thyroid disorders, in other thyroid function test. The familial thyroid disorders suggested that these transmitted from mothers to offsprings with X-linked dominant or autosomal dominant inheritance.