Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis
- 3 June 2003
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 63 (6), 530-535
- https://doi.org/10.1034/j.1399-0004.2003.00082.x
Abstract
46,XY gonadal dysgenesis was transmitted as an autosomal‐dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with normal female genitalia or sexual ambiguity, to mild hypospadias in otherwise normal males. The phenotypic features of this trait appeared to be confined to the genitourinary system. Multipoint parametric analysis using markers D5S664, D5S633, and D5D2102 yielded an LOD score of 4.47, assuming sex‐limited, autosomal‐dominant inheritance with a penetrance of 0.6. Because mutation in testis‐determining genes leads to gonadal dysgenesis in 46,XY individuals, we postulate that the gene mapped by this study normally plays a role in gonadal differentiation.Keywords
This publication has 27 references indexed in Scilit:
- 46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindredAmerican Journal of Medical Genetics Part A, 2002
- Sexual DifferentiationSeminars in Reproductive Medicine, 2000
- X‐linked α‐thalassemia/mental retardation (ATR‐X) syndrome: A new kindred with severe genital anomalies and mild hematologic expressionAmerican Journal of Medical Genetics, 1995
- Male pseudohermaphroditism in sibs with the α‐thalassemia/mental retardation (ATR‐X) syndromeAmerican Journal of Medical Genetics, 1995
- Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related geneNature, 1994
- A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiationCell, 1994
- Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndromeCell, 1991
- A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motifNature, 1990
- Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locusCell, 1990
- Abnormality of the X Chromosome in Human 46,XY Female Siblings with Dysgenetic OvariesScience, 1980