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. Preciously fetal sex determination relied on karyotyping
chorionic
villus cell or amniocyte. Standard karyotyping depends on obtaining multiple high quality metaphases 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 sex determination was performed by the use of cloned Y chromosome-specific DNA probes (Yl-l, 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 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 has 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.
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