Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: Detection of carriers and prenatal diagnosis

被引：5

作者：

Giuseppina Fogu

Veronica Bertini

Salvatore Dessole

Pasquale Bandiera

Paola Maria Campus

Giampiero Capobianco

Raimonda Sanna

Giovanna Soro

Andrea Montella

机构：

[1] Dept. Physiol. Biochem./Cell. Sci., University of Sassari, 07100 Sassari

[2] Center of Clinical Genetics, University of Sassari, 07100 Sassari

[3] Dept. Pharmacol., Gynecol./Obstet., University of Sassari, 07100 Sassari

[4] Department of Biomedical Sciences, University of Sassari, 07100 Sassari

来源：

Archives of Gynecology and Obstetrics | 2003年 / 269卷 / 1期

关键词：

Androgen receptor gene; Complete androgen insensitivity syndrome; Linkage; Short tandem repeat;

D O I：

10.1007/s00404-002-0386-4

中图分类号：

学科分类号：

摘要：

We report the results of a molecular study of a large family segregating the complete form of the Androgen Insensitivity Syndrome (CAIS) in several members from three generations. We identified the mutant allele by Polymerase Chain Reaction (PCR) amplification of the short tandem repeat (CAG)n, highly polymorphic in the population, present in the first exon of the androgen receptor (AR) gene. In this family four different alleles were detected and one of these showed a perfect segregation with the disease. This study enabled us to identify the heterozygous females in this family. We think that this simple, indirect test, is also suitable for prenatal diagnosis of Morris' syndrome when the mother is heterozygous for the size of the short tandem repeat and one affected subject in the family may be studied.

引用

页码：25 / 29

页数：4

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