• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.1-4
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• 2016

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6 ), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122*) in the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia.

• Archives of Pharmacal Research
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• 제22권3호
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• pp.229-231
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• 1999

Recessive oncogenes are genetic functions important in the regulation of tissue growth and differentiation. These genetic functions are defined on the basis of the phenotype expressed by homozygotes. Defining the role of these genes in normal developmental and physiological processes is important to the development of accurate models of the normal regulation of growth and differentiation. Drosophila can be a good system to investigate the neoplastic mechanism of oncogenes and provide a greater understanding in the developmental progression of both invertebrates and vertebrates and vertebrates. The lethal (2) giant larvae gene is a recessive oncogene of Drosophila and temperature sensitive mutations of this gene have been isolated. Here, the application of temperature-sensitive mutations in Drosophila oncogene studies is discussed.

• Journal of Genetic Medicine
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• 제20권1호
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• pp.15-24
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• 2023

Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders cannot be fully explained by mutations in a single gene alone. This review article aims to explore the emerging concept of digenic or oligogenic inheritance in seemingly monogenic disorders. We discuss the underlying mechanisms, clinical implications, and the challenges associated with deciphering the contribution of multiple genes in the development and manifestation of such disorders. We present relevant studies and highlight the importance of adopting a broader genetic approach in understanding the complex genetic architecture of these conditions.

• 한국생물공학회:학술대회논문집
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• 한국생물공학회 2005년도 생물공학의 동향(XVI)
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• pp.335-335
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• 2005

• Genomics & Informatics
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• 제9권3호
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• pp.93-101
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• 2011

The Hairless (HR ) gene regulates the expression of several target genes as a transcriptional corepressor of nuclear receptors. The hair follicle (HF), a small independent organ of the skin, resides in the epidermis and undergoes regenerative cycling for normal hair formation. HF development requires many genes and signaling pathways to function properly in time and space, one of them being the HR gene. Various mutations of the HR gene have been reported to cause the hair loss pheno-type in rodents and humans. In recent studies, it has been suggested that the HR gene is a critical player in the regulation of the hair cycle and, thus, HF development. Furthermore, the HR gene is associated with the Wnt signaling pathway, which regulates proliferation and differentiation of cells and plays an essential role in hair and skin development. In this review, we summarize the mutations responsible for human hair disorders and discuss the roles of the HR gene in HF development.

• 대한의생명과학회지
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• 제11권4호
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• pp.465-471
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• 2005

Ofloxacin has antimycobacterial activity that possibly contributes a pivotal role in the second-line drug regimens that are used for the treatment of multidrug-resistant tuberculosis. However, in some communities, the resistance rate of Mycobacterium tuberculosis to this agent is surging. Therefore, a rapid and accurate method that can be used to determine the resistance of M tuberculosis to the ofloxacin can be very useful for effective treatment of the patients. As an effort to develop such a method, this study was set up to reveal general types of mutations that are related to ofloxacin resistance of M tuberculosis. From previous studies, it has been well known that ofloxacin resistance is associated with mutations in a gene encoding the gyrase A subunit protein. In this study, we obtained 43 ofloxacin-resistant and 50 ofloxacin-susceptible M tuberculosis clinical isolates from Masan National TB Hospital, and sequences of DNA fragment of 320 bp, region of gyrA corresponding to the ofloxacin resistance-determining region were analyzed. In brief, the results showed that a total of seven mutation types were found at gyrA. Theses mutations were all clustered within nucleotides 2574 to 2586 of the gyrA gene (codons 88 to 94). Codon 94 was the most frequently substituted site. Twenty-four of the 43 isolates had mutations at this position resulting in a total of five different types of amino acid changes $(Asp{\to}Ala,\;Asp{\to}Gly,\;Asp{\to}His,\;Asp{\to}Tyr,\;and\;Asp{\to}Asn)$. Five isolates contained a mutation at codon 90 resulting $Ala{\to}Val$ change. Four isolates had mutations at codon 91 causing a $Ser{\to}Pro$ change at this site. Two isolates contained a mutation at codon 88 and each of them resulted in different types of amino acid changes $(Gly{\to}Cys,\;Gly{\to}Ala)$. On the other hand, polymorphic site at codon 95 was found in both ofloxacin-resistant and ofloxacin-susceptible isolates. From these results, we concluded that the rate of mutations present in gyrA among ofloxacin-resistant M. tuberculosis in Korea is similar to the general rates of mutations found throughout the world. Subsequently, an oligonucleotide probe was designed based on the results of sequence analysis and was used to develop a dot blot hybridization assay system to determine ofloxacin-resistance of M tuberculosis. To evaluate this probe, dot-blot hybridization was carried out using other 57 clinical isolates, and the results showed that the dot-blot hybridization assay is good for detecting sequence alterations atgyrA gene.

• 한국정보통신학회:학술대회논문집
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• 한국정보통신학회 2012년도 춘계학술대회
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• pp.913-915
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• 2012

Rifampin 내성 마이코박테리아의 RNA polymerase beta subunit gene (rpoB)의 변이를 of Rifampin-resistant Mycobacteria was analyzed using nucleotide sequence of containing rifampin 내성유전자부위인 $rif^{rr}$을 포함한 rpoB DNA (351 bp)의 염기서열 분석을 이용하여 조사하였다. 본 연구를 위해 마산국립병원과 국립결핵원으로부터 전통적 배양방법으로 rifampin 내성 마이코박테리아를 수집하여 그것들의 rpoB 유전자를 염기서열 분석을 수행하였고 최근까지 보고된 것과는 다른 변이들을 확인할 수 있었다.

• Journal of Microbiology and Biotechnology
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• 제11권2호
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• pp.287-293
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• 2001

A fast and easy PCR-SSCP method was developed and assessed for the early detection of rifampin-resistant Mycobacterium leprae in skin biopsy samples from Korean leprosy patients. The 190 bp of the rpoB gene, in which mutation is known to cause resistance to rifampin, was amplified by PCR and then analyzed by SSCP and DNA sequencing, All PCR products showing mobility shift on PCR-SSCP contained mutations, demonstrating that this method can be used for an early diagnositic method to detect a putative rifampin-resistant M. leprae strain. DNA sequence analysis revealed that 19 of 34 patient samples contained M. leprae strains with missense mutations in the rpoB gene: five were the same mutations previously reported to cause rifampin resistance and eight were the new type of mutatios that likely cause rifampin resistance. These newly identified dmutations, whose all five cytosine bases of four amino acids were substitued with thymine, were found at different sites from those reported in Mycobacterium tuberculosis or M. leprae. Therefore, they may provide additional clues to understand the molecular biological basis on the rifampin resistance of M. leprae.

• Clinical and Experimental Pediatrics
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• 제60권10호
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• pp.327-332
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• 2017

Purpose: Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX ) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations. Methods: We screened all the exons of SHOX for mutations analysis in 105 ISS children patients (57 girls and 48 boys) living in Taif governorate, KSA using a direct DNA sequencing method. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. Results: A total of 30 of 105 ISS patients (28%) contained six polymorphic variants in exons 1, 2, 4, and 6. One mutation was found in the DNA domain binding region of exon 4. Three of these polymorphic variants were novel, while the others were reported previously. There were no significant differences in anthropometric measures in ISS patients with and without identifiable polymorphic variants in SHOX. Conclusion: In Saudi Arabia ISS patients, rather than SHOX, it is possible that new genes are involved in longitudinal growth. Additional molecular analysis is required to diagnose and understand the etiology of this disease.

• Journal of Genetic Medicine
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• 제11권1호
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• pp.31-35
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• 2014

Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism and a wide range of secondary features. To date, mutations in 16 genes have been identified as causative factors for BBS. Among them, the BBS1 and BBS10 genes are major disease-causing genes, and each of these gene mutations presents in more than 20% of all BBS patients. Genotype-phenotype correlations have not been observed in BBS, and there can be phenotypic overlap between BBS and other ciliopathies. In Korea, no molecular, genetically confirmed case of BBS has been reported to date. Herein, we describe the case of the first Korean siblings with BBS resulting from 2 BBS10 gene mutations who showed typical clinical phenotypes, including retinal dystrophy, obesity, intellectual disability, cystic tubular disease, and postaxial polydactyly.