Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 615-619, 2009.
Article
在 Zh
| WPRIM
| ID: wpr-287365
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To map and identify the disease gene for the epidermolytic palmoplantar keratoderma (EPPK) in a Uighur family of China.</p><p><b>METHODS</b>Blood samples were collected and genomic DNA was extracted from 48 members of the Xinjiang Uighur family. Six microsatellite repeat sequences on chromosome region 17q12-q21 and 12q13 were selected based on the two known candidate genes KRT9 and KRT1. Two-point linkage analysis and haplotype analysis were performed. Exons and their flanking intronic sequence of the KRT9 gene were amplified by polymerase chain reaction (PCR) and sequenced.</p><p><b>RESULTS</b>Data from the marker D17S1787 suggested linkage and yielded a Lod score of 8.65 at theta=0 by using MLINK software. Genotypes and haplotypes were acquired. The disease gene of the EPPK family is located between markers 17/TG/36620115 and D17S846. Chromosome 12q13 region was excluded with the negative Lod score obtained in marker D12S96 (Lod=-infinity at theta=0). No pathogenic mutation was detected in the KRT9 gene.</p><p><b>CONCLUSION</b>The disease gene of the EPPK family is located on chromosome region 17q21.2. The keratin 9 gene might not be the disease gene.</p>
全文:
1
索引:
WPRIM
主要主题:
Pedigree
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Chromosomes, Human, Pair 17
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China
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Microsatellite Repeats
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Ethnology
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Keratoderma, Palmoplantar, Epidermolytic
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Keratin-1
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Keratin-9
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Genetics
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Mutation
研究类型:
Prognostic_studies
限制:
Female
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Humans
/
Male
国家/地区名称主题:
Asia
语言:
Zh
期刊:
Chinese Journal of Medical Genetics
年:
2009
类型:
Article