Genetic analysis of keloids

疤痕疙瘩的遗传分析

• 批准号: 6532222
• 负责人: Scott Matthew Williams
• 金额: $ 7.55万
• 依托单位: VANDERBILT UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-09-30 至 2006-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6532222
• 关键词: African American; caucasian American; chromosomes; clinical research; family genetics; gene expression; genetic mapping; genetic markers; genetic polymorphism; genetic screening; genotype; human subject; keloid skin disorder; linkage mapping; phenotype; polymerase chain reaction; racial /ethnic difference; wound healing

DESCRIPTION (provided by applicant): Keloids are benign collagenous tumors that develop during an exaggerated wound healing response of the skin. Keloids are often familial, but the exact mode of transmission is unclear. The long-term goal of the proposed work is to identify the gene(s) that predipose individuals to keloids. This will be accomplished using a positional cloning strategy. The first aim is to map the gene(s) using extended multiplex families, and then to identify the mutation(s) by screening the mapped region for polymorphisms that co-segregate with the disease. The immediate goal of this proposal is to identify the chromosomal location of the keloid gene(s), using linkage-mapping protocols in several large African-American families. African-Americans have been chosen because the prevalence of keloids is -20 fold higher in Blacks than in Whites. Preliminary data suggest that keloids may be genetically heterogeneous, making it important to focus on only one ethnic group where it is likely that fewer genes will be involved in the etiology of this disease. Mapping will be accomplished by recruiting subjects from families with multiple keloid formers and screening microsatellite markers for linkage to the disease phenotype. Studies will initially focus on chromosome 14q, where a putative keloid locus has been identified in preliminary studies.

描述（由申请人提供）：酮类是在皮肤夸张的伤口愈合反应中发育的良性胶原性肿瘤。酮通常是家族性的，但是确切的传播方式尚不清楚。拟议工作的长期目标是识别使个体使个体成为酮的基因。这将使用位置克隆策略来完成。第一个目的是使用扩展的多重家族绘制基因，然后通过筛选与该疾病共隔离的多态性的映射区域来识别突变。 该提案的直接目的是使用几个大型非裔美国人家庭中的连锁映射方案来确定乳突基因的染色体位置。之所以选择非洲裔美国人，是因为黑人的酮类患病率比白人高-20倍。初步数据表明，乳子状物可能在遗传上是异质的，因此仅关注一个族群很重要，在这种族群中可能会涉及这种疾病病因的较少基因。映射将通过从具有多个Keloid形成器的家族招募受试者并筛选微卫星标记以与疾病表型联系起来。研究最初将集中在14q染色体上，在初步研究中已经确定了假定的乳子基因座。