[Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda].
OBJECTIVE
To detect the mutation of the SEDL gene in an X-linked spondyloepiphyseal dysplasia tarda (SEDL) family.


METHODS
Two patients and three females of the X-SEDL family were detected using reverse transcriptase PCR (RT-PCR) and sequence analysis.


RESULTS
A 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.


CONCLUSIONS
Since 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.
Zhu
Hai-yan
HY
Prenatal Diagnosis Center, the Affiliated Drumtower Hospital, Nanjing University Medical School, Nanjing, Jiangsu, 210008 People's Republic of China.
Li
Jie
J
Zhu
Rui-fang
RF
Wu
Xing
X
Duan
Hong-lei
HL
Yang
Ying
Y
Zhang
Ying
Y
Hu
Yali
Y
D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000032:analysis; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion
D018076:DNA, Complementary