Mutation Analysis Of Selected Lymphoid Immune Disorders

该项目代表了一个长期的一系列合作研究的延伸，以更好地表征和了解免疫缺陷。涉及共同γ链（X-SCID）和Fas（ALPS）基因的突变正在使用荧光探针直接基因测序进行评估。这些研究继续在这两种疾病中鉴定出许多新的突变，这些数据已输入NIH NHGRI网站，支持这两种疾病中的每一种。已经使用来自高加索人和非裔美国人对照受试者的对照DNA样品对编码Fas（TNFRSF 6）的基因进行了广泛的评价，以确定该基因中单核苷酸多态性的存在和频率。本研究的数据证实了9个SNP，并在评价的对照DNA样品中鉴定了2个新的SNP。目前正在对结果进行评估，并准备发表。此外，针对编码CD 40 L和NEMO的基因的高IgM综合征患者的突变分析提供了在免疫缺陷程度和存在或不存在外胚层发育不良水平上与NEMO突变相关的临床表型变异性的见解。

This project represents an extension of a long-standing series of collaborative studies performed to better characterize and understand immune deficiency. Mutations involving the genes for the common gamma chain (X-SCID) and Fas (ALPS) are being evaluated using direct gene sequencing with fluorescent probes. These studies have continued to identify a number of new mutations in both diseases and these data have been entered into the NIH NHGRI web site supporting each of these two disorders. An extensive evaluation of the gene encoding Fas (TNFRSF6) has been undertaken using control DNA samples from Caucasian and African American control subjects to determine the presence and frequency of single nucleotide polymorphisms in this gene. The data from this study has confirmed 9 SNPs and identified two new SNPs among the control DNA samples evaluated. The results are currently being evaluated and prepared for publication. In addition, mutation analysis of patients with hyper IgM syndrome directed at the genes encoding CD40 L and NEMO has provided provided insight into the variability of the clinical phenotype associated with mutations in NEMO at the level of the degree of immunodeficiency and the presence or absence of ectodermal dysplasia.