[Trinucleotide repeats polymorphism of the androgenic receptor gene in the detection of carriers of androgen insensitivity syndrome].
Androgen insensitivity syndrome (AIS) is caused by mutation in androgen receptor (AR) gene. This phenomenon leads to the defect of the virilization of the external genitalia and is one of the causes of human male pseudohermaphroditism. Molecular diagnosis of AR gene mutations is very complex because of heterogeneity of AR mutations. AIS is X-linked recessive trait and therefore the simple diagnosis of AIS carriers is a very important problem. Detection of AIS carriers by using the analysis of CAG repeating sequence polymorphism of exon 1 or AR gene is reported.
Slezak
R
R
Zakładu Genetyki Katedry Patofizjologii Akademii Medycznej, Wrocławiu.
Sasiadek
M
M
Jagielski
J
J
D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis / Q000235:genetics*; D000728:Androgens / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics*; D011944:Receptors, Androgen / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics*
D000728:Androgens; D011944:Receptors, Androgen
Wykorzystanie polimorfizmu sekwencji trójnukleotydowych genu receptora androgenowego w diagnostyce nosicielstwa w rodzinnie wystepujacym zespole niewrazliwości na androgeny.