Association of the Hind III polymorphism with the androgen receptor gene in partial androgen insensitivity syndrome.
Partial androgen insensitivity syndrome (PAIS) is an X-linked disorder resulting from defects in the intracellular androgen receptor (AR). The cloning of the AR cDNA has provided the molecular tools to identify gene abnormalities. Gene deletions being the exception in PAIS, prenatal diagnosis of PAIS resulting from a single base mutation in high risk families is not practical unless the mutation is already known. Brown et al. (1989) reported that 10% of normal X chromosomes present a Hind III 6.7/3.5 kb polymorphism. In this study, we report the association of the Hind II polymorphism in a woman whose son has a PAIS associated with a very low androgen receptor concentration: we differentiated the two maternal X chromosomes and characterized the affected allele. These data demonstrate that the presence of Hind III polymorphic fragments could be used in prenatal diagnosis of androgen insensitivity syndrome in high risk families.
Lobaccaro
J M
JM
INSERM U58 (Biochimie des Stéroïdes), Montpellier, France.
Belon
C
C
Ruiz-Pacheco
R
R
Heinrichs
C
C
Van Regemorter
N
N
Terraza
A
A
Sultan
C
C
D000483:Alleles; D015247:Deoxyribonuclease HindIII; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D011944:Receptors, Androgen / Q000235:genetics*; D012733:Sex Differentiation; D013577:Syndrome; D014960:X Chromosome
D011944:Receptors, Androgen; D015247:Deoxyribonuclease HindIII