Molecular biological approach for analysis of fetal sex chromosomal DNA and its clinical application for prenatal genetic diagnosis = 분자생물학적방법에 의한 태아의 성염색체분석과 이의 산전 유전질환 진단응용

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Title
Molecular biological approach for analysis of fetal sex chromosomal DNA and its clinical application for prenatal genetic diagnosis = 분자생물학적방법에 의한 태아의 성염색체분석과 이의 산전 유전질환 진단응용
Author(s)
Y H Yang; I K Kim; Hyang Sook Yoo; Dong Uk Kim; I S Sohn; K S Song; Y W Park
Bibliographic Citation
Korean Journal of Obstetrics and Gynecology, vol. 36, no. 6, pp. 773-783
Publication Year
1993
Abstract
Prenatal determination of fetal 狀x is extremely important in the management of X-1 inked disorders such as Duchenne muscular, dystrophy, Hemophilia A and B, and the Leach-Nyhan syndrome. Previously fetal sex determination relied on karyotyping chorionic villus cell or amniocyte. Standard karyotyping depends on obtaining multiple h增h quality me-tapha效s from cells cultured for days to weeks before analysis. Polymerase chain reaction is a rapid and sensitive method to analyze a specific DNA sequence. Polymerase chain reaction can detect the DNA contained small amount of amniotic fluid, a single chorionic villus, a single cell equivalent. The result of polymerase chain reaction can be obtained in 4 to 6 hours. In this study, prenatal diagnosis for kx determination was performed by the use of cloned Y chromosome-speciflc DNA probes (Yl-1, Yl-2 and Yl-5, Yl-6) in 6 humdn lymphocyte, 11 chorionic villi sampling, 7 amniocentesis, 11 placental biopsy. Bright Y-specific band identified in all male DNA. AU results were verified by karyotyping. Y-specific sequences were amplified from all male DNA samples. Futher application of this technique,the analysis of sex-reversed individuals (46, XX males and 4^,XY females) and patients with other types of sex-chromosomal anomalies has led to the development and refinement of the deletioji map. "Die ina^sb of ^regiMnt peripheral blood for determin^tton bf fetal sex and fetal genetic dUonfers and prei변pjmtja^ion genetio diagnosis may be possible.
ISSN
0494-4755
Publisher
Korea Soc-Assoc-Inst
Type
Article
Appears in Collections:
Division of Biomedical Research > Rare Disease Research Center > 1. Journal Articles
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