KLI

한국인 Fragile-X 증후군 환자의 분자 유전학적 진단

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Alternative Title
Molecular Diagnosis of Korean Patients with Fragile-X Syndrome
Abstract
Fragile-X syndrome (FXS) is the most common cause of inherited mental retardation. Until recently, the diagnosis of FXS has been made based on the cytogenetic expression of the fragile site at Xq27.3 (FRAXA) in the patients' cultured cells and on the results of linkage analysis with DNA markers surrounding the fragile X locus. The recent cloning of fragile-X gene(FMR-1) made it possible investigate the molecular defects in FMR-1 gene of individuals at risk. Vast majority of molecular defects of FXS has been known to be an abnormally amplified trinucleotide(cytosine guanine guanine) repeat.

This study aims at establishing the molecular genetic diagnosis of FXS as well as correlating genotype-phenotype analyzing the increment of amplified CGG repeat number, clinical findings, and cytogenetic expression rate in two Korean families with FXS patients. The FXS patients are tested cytogenetically & molecular genetically. The fragile site at Xq27.3 was cytogenetically expressed in folate deficient medium by culturing lymphocytes for 4 days. Molecular diagnostic approaches utilize the genomic DNA Southern blot analysis using genomic probe FXA 241 (ONCOR) and radiolabelled PCR-denaturing polyacrylamide gelelcetrophoresis.

Each patient expressed a FRAXA site in folate deficient medium with the expression rate of 38%, 16% respectively. The molecular genetic study showed that each patient had the CGG amplification 1.6kb, 0.7-0.8kb in the FMR-1 gene respectively. In addition, this study clarified the carrier status of each family members.

In conclusion, molecular genetic studies employed in this study can be utilized for a confimatory diagnostic purpose in FXS patients.
Fragile-X syndrome (FXS) is the most common cause of inherited mental retardation. Until recently, the diagnosis of FXS has been made based on the cytogenetic expression of the fragile site at Xq27.3 (FRAXA) in the patients' cultured cells and on the results of linkage analysis with DNA markers surrounding the fragile X locus. The recent cloning of fragile-X gene(FMR-1) made it possible investigate the molecular defects in FMR-1 gene of individuals at risk. Vast majority of molecular defects of FXS has been known to be an abnormally amplified trinucleotide(cytosine guanine guanine) repeat.

This study aims at establishing the molecular genetic diagnosis of FXS as well as correlating genotype-phenotype analyzing the increment of amplified CGG repeat number, clinical findings, and cytogenetic expression rate in two Korean families with FXS patients. The FXS patients are tested cytogenetically & molecular genetically. The fragile site at Xq27.3 was cytogenetically expressed in folate deficient medium by culturing lymphocytes for 4 days. Molecular diagnostic approaches utilize the genomic DNA Southern blot analysis using genomic probe FXA 241 (ONCOR) and radiolabelled PCR-denaturing polyacrylamide gelelcetrophoresis.

Each patient expressed a FRAXA site in folate deficient medium with the expression rate of 38%, 16% respectively. The molecular genetic study showed that each patient had the CGG amplification 1.6kb, 0.7-0.8kb in the FMR-1 gene respectively. In addition, this study clarified the carrier status of each family members.

In conclusion, molecular genetic studies employed in this study can be utilized for a confimatory diagnostic purpose in FXS patients.
Author(s)
김경모유한욱
Issued Date
1994
Type
Research Laboratory
URI
https://oak.ulsan.ac.kr/handle/2021.oak/5328
http://ulsan.dcollection.net/jsp/common/DcLoOrgPer.jsp?sItemId=000002025033
Alternative Author(s)
Kim,Kyung MoYoo,Han-Wook
Publisher
울산의대학술지
Language
kor
Rights
울산대학교 저작물은 저작권에 의해 보호받습니다.
Citation Volume
3
Citation Number
2
Citation Start Page
12
Citation End Page
19
Appears in Collections:
Research Laboratory > The ULSAN university medical journal
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