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KMID : 0624219940020000018
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Focus on Genetic Science
1994 Volume.2 No. 0 p.18 ~ p.29
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Rapid PCR analysis of St14 (DXS52) VNTR
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양영호:Yang Young-Ho
송경순:Song Kyung-Soon/김인규:Kim In-Kyu/차동현:Cha Dong-Hyun
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Abstract
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RFLP analysis of RCR amplified St14 VNTR has been performed for the prenatal diagnosis of hemophilia A. Thirteen St14 VNTR alleles with 700-2700 bp in size were identified in 122 healthy male and 95 female (total 312 X chromosomes). The frequency of appearance of 700 bp allele was 45.2% with the assumed prediction rate of 70.5%. RFLP analysis of St14 VNTR in the family (A) of which a son with hemophilia A showed 1390 bp allele of St14 VNTR. The mother showed 1390 bp/1330 bp alleles and the father showed 700 bp allele. But the daughter of the family showed 1330 bp/700 bp. which are normal alleles received from her father and mother. From this result it is assumed that 1390 bp allele is related to hemophilia A. RFLP analysis of St14 VNTR in the other family (B) of which a son died of hemophilia A showed 1280 bp St14 VNTR allele in non-hemophilic brother. The mother of the son showed 1280 bp/700 bp sizes of alleles and the grandmother showed 1470 bp/700 bp alleles in size. The chorionic villi of fetus showed 1280 bp of amplified DNA fragment which is a normal allele. In this family, 700 bp allele is related to hemophilia A, and BclI or XbaI restriction analysis showed no informative RFLP. In conclusion, RFLP analysis of PCR amplified St14 VNTR is a useful tool for the prenatal and preimmplantation genetic diagnosis of hemophilia A.
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KEYWORD
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