Molecular diagnosis of Down's syndrome.
- Author:
Shuyu WANG
1
;
Chanwei JIA
;
Guoqing REN
;
Yanmin MA
;
Wei LÜ
;
Feng DING
;
Jian HAN
Author Information
- Publication Type:Journal Article
- MeSH: Cytogenetic Analysis; methods; Down Syndrome; diagnosis; genetics; Humans; Polymerase Chain Reaction
- From: Chinese Medical Journal 2003;116(11):1773-1775
- CountryChina
- Language:English
-
Abstract:
OBJECTIVETo establish a new diagnostic method for Down's syndrome using polymerase chain reaction (PCR).
METHODSDNA extracted from five healthy individuals and five Down's syndrome patients was amplified in six specific tetranucleotide repeat loci on chromosome 21 using PCR. An accurate diagnosis was made by analyzing allelic distribution at each locus.
RESULTSAll Down's syndrome patients were identified as having at least two loci with three alleles, while none of the healthy individuals had three alleles. In addition, when two alleles were identified for a particular locus in the Down's syndrome samples, it was more likely that the intensity ratio between the two alleles was close to 2:1.
CONCLUSIONThe molecular method can provide a fast, accurate, and economical alternation for the traditional cytogenetic diagnostic method for Down's syndrome.
