CHROMOSOMAL MAPPING OF FAMILIAL KELOIDS BY LINKAGE ANALYSIS

在6个有瘢痕疙瘩形成家族易感性的家系中， 遗传模式表明显性遗传疾病是由于 单个常染色体基因。作为识别基因的第一步， 对这些家庭的混乱负责，我们将执行一项 利用简单重复序列对其基因组进行系统分析 多态性DNA将从受影响和未受影响的血液中提取 家族成员，并用作PCR的模板， 染色体标记还将培养EBV转化的淋巴母细胞 从选定的受影响和未受影响的个人，并作为来源， 用于候选基因cDNA的PCR扩增的mRNA。LOD评分将 使用标准程序计算。将对候选基因进行评估 通过检测基因内多态性标记、SSCP分析和循环， 从EBV转化的淋巴母细胞扩增的cDNA测序。

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.