Sex determination in both fetuses and infants with ambiguous external genitalia usually necessitates time-consuming and costly karyotyping. We propose a simple, rapid, and reliable method of prenatal and postnatal sex determination by means of the PCR, a technique currently used to identify gender for forensic purposes. DNA was extracted from 20 samples of whole blood from infants with ambiguous genitalia and from five samples of amniotic fluid. Three markers were amplified from each specimen: a Y chromosome alphoid repeat sequence and two homologous genes, amelogenin (AME) and zinc finger protein (ZFP). All three were detected in under 10 hr. A comparison of the results obtained with those of cytogenetic analysis of the same samples showed a perfect sex match, demonstrating that this PCR technique provides an accurate means of determining gender.
630 individuals and 102 mother/child pairs from the Veneto provinces were examined for their red cell EsD by Cellogel electrophoresis. Compared with the horizontal starch-gel electrophoresis no differences in the zymogram patterns have been found. The gene frequencies observed (EsD1 = 0.8556; EsD2 = 0.1444) differ only slightly from those reorted for various European populations and are nearly identical with data for other Italian populations. Family studies confirmed the Mendelian co-dominant inheritance.
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