马凡综合征：排除与COL1A2基因的遗传连锁关系。
Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene.
作者信息
Tsipouras P, Børresen A L, Bamforth S, Harper P S, Berg K
出版信息
Clin Genet. 1986 Nov;30(5):428-32.
PMID:2879657
Abstract
Marfan Syndrome is a genetic disorder of the connective tissue. Individuals from one large family with this disorder were genotyped for COL1A2 gene associated RFLPs. Our results demonstrated that the COL1A2 gene, encoding the proa2(I) collagen chain, segregated independently of the phenotype and it is therefore excluded as the mutant locus in this family.
摘要
马凡氏综合征是一种结缔组织的遗传性疾病。对来自一个患有这种疾病的大家庭的个体进行了与COL1A2基因相关的限制性片段长度多态性（RFLPs）基因分型。我们的结果表明，编码原α2（I）胶原链的COL1A2基因与表型独立分离，因此在这个家族中被排除为突变位点。
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