A Single Nucleotide Variant in HNF-1β is associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family
| Autor: | Peng ZHOU, Ran WEI, Zhenkui GUO, Haining ZHU, Desmond CAMPBELL, Qi LI, Xiaoqun XU, Junfu WANG, Meng LUAN, Xing CHEN, Gang CHEN |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Iranian Journal of Public Health, Vol 45, Iss 2 (2016) |
| Druh dokumentu: | article |
| ISSN: | 2251-6085 2251-6093 |
| Popis: | Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous entity of monogenic disorders characterized by autosomal dominant inheritance. Eleven genes were related, including HNF4α, GCK, HNF1α, IPF1, and HNF-1β, and various mutations are being reported. Methods: To help the overall understanding of MODY-related pathologic mutations, we studied a large MODY family found in 2012, in Shandong, China, which contained 9 patients over 3 generations.DNA was extracted from the periphery blood samples of (i) 9 affected members, (ii) 17 unaffected members, and (iii) 1000 healthy controls. Three pooled samples were obtained by mixing equal quantity ofDNA of each individual within the each group. Totally 400 microsatellite markers across the whole genome were genotyped by capillary electrophoresis. The known MODY-related gene near the identified marker was sequenced to look for putative risk variants. Results: Allelic frequency of marker D17S798 on chromosome 17q11.2 were significantly different (P |
| Databáze: | Directory of Open Access Journals |
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