2014 Fiscal Year Final Research Report
Identification and functional analysis of responsible gene(s) for Mongolian blue spot
Project/Area Number |
25670498
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Research Category |
Grant-in-Aid for Challenging Exploratory Research
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Allocation Type | Multi-year Fund |
Research Field |
Dermatology
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Research Institution | Yamagata University |
Principal Investigator |
SUZUKI Tamio 山形大学, 医学部, 教授 (30206502)
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Research Collaborator |
HOZUMI Yutaka , 技術系職員
OKAMURA Ken
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Project Period (FY) |
2013-04-01 – 2015-03-31
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Keywords | 蒙古斑 / 色素細胞 / メラニン / 色素異常症 |
Outline of Final Research Achievements |
A Mongolian spots is dermal melanocytosis which is a benign, congenital birthmark. It normally disappears five to eight years after birth. It is common among persons who are of Asian, and African descent, while rare in babies of full Caucasian descent, suggesting that genetic factor(s) might determine the condition. Then, in order to identify responsible gene(s) for Mongolian blue spot, we found 4 segregation families that had both babies with, or without Mongolian spot in the families, one Japanese and three Mongolian families. And, we collected 41 samples from the families, and extracted DNA. A linkage analysis to identify the locus on chromosome was done using the DNAs. However, we could not specify the locus which was statistically significant through the experiments. One of reasons why we failed to identify the Mongolian associated gene(s) would be ascertainment bias, which we depended on the uncertain memories of the parents about the Mongolian spot on their kids.
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Free Research Field |
色素異常症
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