[Androgen receptor gene polymorphism analysis: application to screening of heterozygote and to prenatal diagnosis of androgen insensitivity syndrome].
Androgen insensitivity syndromes are X-linked disorders. Restriction fragment length polymorphism analysis of the androgen receptor gene showed that deletions were infrequent. Some mutations have been described. In these conditions, in high-risk family, carrier diagnosis is impossible unless identification of mutations is made. It is thus necessary to detect androgen receptor gene polymorphism in order to differentiate the two maternal X chromosomes. Two androgen receptor gene polymorphisms have been reported (Hind III and exon 1). In this study we analyzed these two gene polymorphisms to detect carriers in at-risk families. The combined results of the two analyses allowed us to detect carriers in 45% of the studied families. In two families the prenatal diagnosis of androgen insensitivity syndrome was performed.
Lobaccaro
J M
JM
Unité de Biochimie Endocrinienne du Développement et de la Reproduction, CHRU Lapeyronie, Montpellier, France.
Lumbroso
S
S
Sultan
C
C
D015247:Deoxyribonuclease HindIII / Q000235:genetics; D012734:Disorders of Sex Development / Q000175:diagnosis*; D005091:Exons; D005260:Female; D005796:Genes / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008403:Mass Screening; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011944:Receptors, Androgen / Q000235:genetics* / Q000378:metabolism; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000517:prevention & control; D013577:Syndrome; D014960:X Chromosome
D011944:Receptors, Androgen; D015247:Deoxyribonuclease HindIII
Analyse des polymorphismes du gène du récepteur des androgènes: application au dépistage de l'hétérozygotie et au diagnostic anténatal des syndromes d'insensibilité aux androgènes.