[Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum].

Abstract

OBJECTIVE:

To screen all ten genes between D15S971 and D15S1012 in five Chinese families with hereditary spastic paraplegia with thin corpus callosum (HSP-TCC).

METHODS:

DNA 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.

RESULTS:

No disease-causing mutations were found in the 10 genes, but 13 polymorphisms were identified in which two were novel.

CONCLUSION:

This study did not support the ten genes between D15S971 and D15S1012 were the disease-causing genes of the 5 HSP-TCC families.

• Authors: Guo-hua Zhao, Peng Guo, Zhi-jun Ren, Xiao-min Liu, Lu Shen, Kun Xia, Bei-sha Tang
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 24 Issue 6 Pg. 677-80 (Dec 2007) ISSN: 1003-9406 [Print] China
• PMID: 18067082 (Publication Type: Journal Article)

Topics

• Adult
• Asian People (genetics)
• Chromosomes, Human, Pair 15
• Corpus Callosum (pathology)
• Female
• Genes, Recessive
• Humans
• Male
• Paraparesis, Spastic (genetics)
• Spastic Paraplegia, Hereditary (complications, genetics)