Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 677-680, 2007.
Article
在 Zh
| WPRIM
| ID: wpr-229846
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To screen all ten genes between D15S971 and D15S1012 in five Chinese families with hereditary spastic paraplegia with thin corpus callosum (HSP-TCC).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>No disease-causing mutations were found in the 10 genes, but 13 polymorphisms were identified in which two were novel.</p><p><b>CONCLUSION</b>This study did not support the ten genes between D15S971 and D15S1012 were the disease-causing genes of the 5 HSP-TCC families.</p>
全文:
1
索引:
WPRIM
主要主题:
Pathology
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Chromosomes, Human, Pair 15
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Spastic Paraplegia, Hereditary
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Corpus Callosum
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Paraparesis, Spastic
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Asian People
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Genes, Recessive
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Genetics
研究类型:
Diagnostic_studies
/
Screening_studies
限制:
Adult
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Female
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Humans
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Male
语言:
Zh
期刊:
Chinese Journal of Medical Genetics
年:
2007
类型:
Article