Molecular Analysis of the Y Chromosome in a 46,XY Female Phenotype

• 발행기관: 대한의학유전학회
• 저자명: Jin Woo Kim Tae Jin Kim So Yeon Park Sung A Nam Jong Young Jun
• 간행물 정보: 『대한의학유전학회지』제3권 제1호, 5~10쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 1999.12.30

영문 초록

This is a case report of 46,XY female phenotype (46,XY karyotype, no pubic hair, blind vagina and absence of uterus) in an 18-year-old patient. To confirm whether a Y chromosome has a structural abnormality, fluorescent in situ hybridization (FISH) with the chromosome X/Y cocktail probe was simultaneously performed, and the six loci (PABY, SRY, RPS4Y (sy16, sy17), ZFY, DYS14) on the short arm, one locus (DYZ3) on the centromere and one locus (DYZ1) on the long arm were amplified by polymerase chain reaction (PCR). The probes used FISH hybridized to centromere of the X chromosome and heterochromatin region (Yq12) of the Y chromosome, and all PCR related Y chromosome showed positive band like normal male. From the results obtained, it seemed that the Y chromosome from the 46,XY female was structurely normal. Especially, the SRY gene has been equated with the mammalian testis-determining factor, and absence or point mutation in the SRY gene causes XY female. To detect the point mutations of SRY sequences, single-strand conformation polymorphism (SSCP) assay was used. Our results confirm that this patient has no mutation in the SRY gene on the Y chromosome.

목차

INTRODUCTION

MATERIALS AND METHODS

RESULTS

DISCUSSION

REFERENCES

키워드

46 XY female FISH PCR SRY mutation SSCP