Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2007
[Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum].
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Zhao Guo-hua, Guo Peng, Ren Zhi-jun, Liu Xiao-min, Shen Lu, Xia Kun, Tang Bei-sha
Аннотация
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.
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.