662 A/G gene variation in human tumor necrosis factor receptor superfamily, member 9 (TNFRSF9)

2008年第2卷第3期

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《医学前沿（英文）》 >> 2008年第2卷第3期 doi: 10.1007/s11684-008-0053-7

662 A/G gene variation in human tumor necrosis factor receptor superfamily, member 9 (TNFRSF9)

1.Tianjin Institute of Urology, The Second Hospital of Tianjin Medical University; Beijing Institute of Geriatrics, Beijing Hospital, Ministry of Health; 2.Beijing Institute of Geriatrics, Beijing Hospital, Ministry of Health; 3.Endocrinology Department, The People's Hospital, Beijing University;

发布日期： 2008-09-05

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摘要

The aim of this paper is to report a new coding variance of the gene, a candidate for autoimmune diseases. We found the variation in two families with type 2 diabetes mellitus by D-HPLC mutation screening method and confirmed our results by direct sequencing and PCR-RFLP. Although without changing the amino acid coding, the variance may have an effect on codon usage and play a role in disease development, such as type 2 diabetes mellitus. However, we cannot define the role of this variance because the frequency of the minor allele is low in the Chinese population and no homozygote of the variance was found. More research in multiple populations will be necessary to define the role of this variance.

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D-HPLC mutation ; development ; autoimmune ; PCR-RFLP ; candidate