Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum.
- Author:
Guo-hua ZHAO
1
;
Peng GUO
;
Zhi-jun REN
;
Xiao-min LIU
;
Lu SHEN
;
Kun XIA
;
Bei-sha TANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Chromosomes, Human, Pair 15; Corpus Callosum; pathology; Female; Genes, Recessive; Humans; Male; Paraparesis, Spastic; genetics; Spastic Paraplegia, Hereditary; complications; genetics
- From: Chinese Journal of Medical Genetics 2007;24(6):677-680
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo screen all ten genes between D15S971 and D15S1012 in five Chinese families with hereditary spastic paraplegia with thin corpus callosum (HSP-TCC).
METHODSDNA samples from 5 HSP-TCC families were screened for mutations in AK128197, MGC14798, HH114, MEIS2, MGC35118, SPRED1, AK128458, FLJ38426, RASGRP1 and AK093014 on chromosome 15q13-15 between microsatellites D15S971 and D15S1012 by polymerase chain reaction, direct sequencing and cosegreagation analysis.
RESULTSNo disease-causing mutations were found in the 10 genes, but 13 polymorphisms were identified in which two were novel.
CONCLUSIONThis study did not support the ten genes between D15S971 and D15S1012 were the disease-causing genes of the 5 HSP-TCC families.
