Genetic analysis of keloids

疤痕疙瘩的遗传分析

• 批准号: 6933092
• 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/6933092
• 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）：疤痕疙瘩是良性胶原肿瘤，在皮肤过度的伤口愈合反应过程中形成。疤痕疙瘩通常具有家族性，但确切的传播方式尚不清楚。拟议工作的长期目标是确定使个体易患疤痕疙瘩的基因。这将使用定位克隆策略来完成。第一个目标是使用扩展的多重家族来绘制基因图谱，然后通过筛选绘制的区域中与疾病共分离的多态性来识别突变。 该提案的直接目标是利用几个非裔美国人大家庭的连锁作图方案来确定瘢痕疙瘩基因的染色体位置。选择非裔美国人是因为黑人的疤痕疙瘩患病率比白人高 -20 倍。初步数据表明，疤痕疙瘩可能具有遗传异质性，因此仅关注一个种族群体很重要，因为该种族的病因可能涉及较少的基因。绘图将通过从具有多种瘢痕疙瘩形成者的家庭中招募受试者并筛选与疾病表型关联的微卫星标记来完成。研究最初将集中在 14q 染色体上，初步研究已确定该区域有一个假定的瘢痕疙瘩基因座。