Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda.
- Author:
Hai-yan ZHU
1
;
Jie LI
;
Rui-fang ZHU
;
Xing WU
;
Hong-lei DUAN
;
Ying YANG
;
Ying ZHANG
;
Yali HU
Author Information
- Publication Type:Journal Article
- MeSH: Chromosomes, Human, X; DNA Mutational Analysis; DNA, Complementary; analysis; Female; Genetic Diseases, X-Linked; genetics; Genetic Linkage; Humans; Male; Osteochondrodysplasias; genetics; Pedigree; Sequence Deletion
- From: Chinese Journal of Medical Genetics 2008;25(4):421-423
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect the mutation of the SEDL gene in an X-linked spondyloepiphyseal dysplasia tarda (SEDL) family.
METHODSTwo patients and three females of the X-SEDL family were detected using reverse transcriptase PCR (RT-PCR) and sequence analysis.
RESULTSA G209A mutation of SEDL gene was detected in the cDNA sequences of the patients, which was confirmed by sequence analysis of the exon 4 of the SEDL gene. The daughter of the proband was a carrier of the mutation.
CONCLUSIONSince the SEDL gene is relatively small, sequence analysis of cDNA of the SEDL gene was possible after extraction of total RNA followed by RT-PCR. Mutations in the open reading frame can be detected y by cDNA sequencing. It was relatively more rapid and direct than amplifying and detecting the exons one by one.
