Use of a probe for the putative sex determining gene, zinc finger Y, in the study of patients with ambiguous genitalia and XY gonadal dysgenesis.

Abstract

Using reverse genetics, a candidate for the sex determining gene from the Y chromosome has recently been cloned. We have used a DNA probe from this gene to assess the presence of this crucial region of the Y chromosome in patients with sexual ambiguity or gonadal dysgenesis. The DNA from 3 cases of gonadal dysgenesis, one complicated by somatic anomalies and mental retardation, reacted normally with this putative sex determining gene. A patient having a small phallus and pseudovaginal, perineoscrotal hypospadias (PPSH) also had normal Y chromosomal DNA. We hypothesize that the defect in sex determination in all 4 cases is most probably subsequent to the primary sex determining switch.

• Authors: R P Erickson, V Verga, M Dasouki
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 36 Issue 2 Pg. 232-6 (Jun 1990) ISSN: 0148-7299 [Print] United States
• PMID: 2368811 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• DNA Probes
• DNA

Topics

• Adult
• Autoradiography
• DNA (analysis)
• DNA Probes
• Female
• Gonadal Dysgenesis (genetics)
• Gonadal Dysgenesis, 46,XY (genetics)
• Humans
• Infant, Newborn
• Male
• Sex Determination Analysis
• Y Chromosome