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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):677-80.
[Article in Chinese]

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.

MeSH terms

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