[Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum]
Guo-hua Zhao1, Peng Guo, Zhi-jun Ren
1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
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.
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