Y-specific DNA sequence를 이용한 중합효소연쇄반응으로 정상 남여, 융모막 융모, 양수세포, 태반생검조직에서 성판정을 실시하였다. 이로써 반성 유전질환에서의 신속하고 정확한 산전 태아의 성판정과 표현형이 불명확한 XX male, XY female 및 불명료한 상호전이 태아염색체 핵 형에서 전이된 물질의 기원규명이 가능하며, 임산부 모체혈에서 태아의 혈액을 추출하여 태 아의 성 감별 및 태아 유전자 이상의 진단 가능성을 시사하였으며, 더 나아가서 착상전 산전 진단(preimplantation genetic diagnosis)에도 응용되어 앞으로의 산전진단에 획기적인 기여가 될 것으로 사료된다.

Prenatal determination of fetal sex is extremely important in the management of X- linked disorders such as Duchenne muscular dystrophy, Hemophilia A and B, and the Lesch- Nyhan syndrome. Previously fetal sex determination relied on karyotyping chorionic villus cell or amniocyte. Standard karyotyping depends on obtaining multiple high quality metaphases form 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 sex detrmination was performed by the use of cloned Y chormosome-speicific DNA probes (Y1-1, Y1-2 and Y1-5, Y1-6) in 6 human lymphocyte, 11 chorionic villi sampling, 7 amniocentesis, 11 placental biopsy. Bright Y-specific band identified in all male DNA. All 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 46,XY females) and patients with other types of sex-chromosomal anomalies had led to the development and refinement of the deletion map. The analysis of pregnant peripheral blood for determination of fetal sex and fetal genetic disorders and preimplantation genetic diagnosis may be possible.