CHROMOSOMAL MAPPING OF FAMILIAL KELOIDS BY LINKAGE ANALYSIS

通过连锁分析进行家族性瘢痕疙瘩染色体定位

• 批准号: 5206341
• 负责人: BJORN OLSEN
• 金额: --
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/5206341
• 关键词: chromosomes; family genetics; genetic markers; genetic polymorphism; human genetic material tag; keloid skin disorder; linkage mapping; polymerase chain reaction; single strand conformation polymorphism

In six pedigrees with a familial predisposition to keloid formation the pattern of inheritance suggests a dominantly inherited disease due to a single autosomal gene. As a first step in identifying the gene(s) responsible for the disorder in these families, we will perform a systematic analysis of their genomes using simple sequence repeat polymorphisms. DNA will be extracted from blood of affected and unaffected family members and used as template for PCR with primers for polymorphic chromosomal markers. EBV-transformed lymphoblasts will also be cultured from selected affected and unaffected individuals and used as source of mRNA for PCR amplification of cDNAs for candidate genes. LOD scores will be calculated using standard programs. Candidate genes will be evaluated by testing of intragenic polymorphic markers, SSCP analyses, and cycle sequencing of cDNA amplified form EBV-transformed lymphoblasts.

在6个有瘢痕疙瘩形成家族易感性的家系中 遗传模式表明一种显性遗传性疾病是由于 单个常染色体基因。作为鉴定基因的第一步(S) 对这些家庭的混乱负责，我们将执行一项 利用简单序列重复序列对它们的基因组进行系统分析 多态现象。将从感染和未感染患者的血液中提取DNA 以家系成员为模板，用多态引物进行聚合酶链式反应 染色体标记。EBV转化的淋巴母细胞也将被培养 来自选定的受影响和未受影响的个人，并用作 用于候选基因的cDNA的聚合酶链式反应扩增。LOD分数将 使用标准程序进行计算。候选基因将被评估 通过检测基因内多态标记、SSCP分析和循环 EBV转化的淋巴母细胞中扩增的基因序列分析。