Document Detail

Utility of XY-amelogenin gene primers for detection of sex chromosomes.
MedLine Citation:
PMID:  9604546     Owner:  NLM     Status:  MEDLINE    
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.
M R Chowdhury; R Mathur; I C Verma
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Indian journal of medical research     Volume:  107     ISSN:  0971-5916     ISO Abbreviation:  Indian J. Med. Res.     Publication Date:  1998 Apr 
Date Detail:
Created Date:  1998-06-11     Completed Date:  1998-06-11     Revised Date:  2013-04-18    
Medline Journal Info:
Nlm Unique ID:  0374701     Medline TA:  Indian J Med Res     Country:  INDIA    
Other Details:
Languages:  eng     Pagination:  182-6     Citation Subset:  IM    
Department of Paediatrics, All India Institute of Medical Sciences, New Delhi.
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MeSH Terms
Child, Preschool
Dental Enamel Proteins / genetics*
Polymerase Chain Reaction*
Prenatal Diagnosis
Sex Chromosome Aberrations / diagnosis
Sex Chromosomes*
Reg. No./Substance:
0/Amelogenin; 0/Dental Enamel Proteins

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