Utility of XY-amelogenin gene primers for detection of sex chromosomes.
The utility of polymerase chain reaction (PCR) amplification of amelogenin gene as a reliable and rapid means of determination of sex chromosomes was tested in 20 patients of X-linked disorders (Duchenne muscular dystrophy, haemophilia and Wiscott-Aldrich and Hunter's syndromes), 12 of intersex (testicular feminization syndrome, male pseudohermaphrodites, true hermaphrodites) and 21 of congenital adrenal hyperplasia. Of these, 26 (49%) cases were for prenatal diagnosis of X-linked diseases and congenital adrenal hyperplasia (CAH). The presence of X and Y chromosomes was determined within 24 h of receiving the samples. The results were in conformity with cytogenetic studies in all instances. The analysis of amelogenin gene proved helpful in the diagnosis and management of these patients.
Chowdhury
M R
MR
Department of Paediatrics, All India Institute of Medical Sciences, New Delhi.
Mathur
R
R
Verma
I C
IC
D000293:Adolescent; D000328:Adult; D053523:Amelogenin; D002648:Child; D002675:Child, Preschool; D003746:Dental Enamel Proteins / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis; D012730:Sex Chromosomes
D053523:Amelogenin; D003746:Dental Enamel Proteins