The study of sequence and structure of intron 8 in Wilson disease gene.
- VernacularTitle:肝豆状核变性基因8号内含子的研究
- Author:
Chunshui YANG
;
Xiuling LIANG
;
Zhenwen YAN
;
Pingyi XU
- Publication Type:Journal Article
- From:
Chinese Journal of Nervous and Mental Diseases
2001;27(2):89-92
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the sequence and structure of intron 8 in WD gene in order to further understand the relationship between intron 8 and WD. Methods We utilized polymerase chain reaction (PCR) to the amplification of exon 8-intron 8-exon 9 which were then sequenced by a dideoxy chain termination methon in 10 normal controls and 32 members of 11 families(20 WD patients and 10 of their relative). The results were analyzed by the computer. Results The sequence of intron 8 was 703 bp with the G + C content of 42.7%. There were one short tandom repeats, 7 direct and inverted repeats in it. An open reading frame coded with 82aa was found at 323 base pairs of downstream of a TATAbox. There were two DNA polymorphisms at 408 and 487 nucleotides. The sequence analysis showed that the 5end has the sequence of 5-GTAAC, 3end has the sequence of CCTAG-3, and branchpoint of 5-TTTCGA-3.Conclusions The sequences and structures of intron 8 in WD familiess members are not different from normal controls. Our data suggest that the WD gene intron 8 might not play an important role in the pathogenesis of WD.
