MAPPING A GENE FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TO CHROMOSOME-14Q1
MAPPING A GENE FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY TO CHROMOSOME-14Q1
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DOI：
10.1056/nejm198911163212005
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发表时间：
1989-11-16
影响因子：
158.5
通讯作者：
SEIDMAN, CE
中科院分区：
文献类型：
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作者：
JARCHO, JA;MCKENNA, W;SEIDMAN, CE
为了确定家族性肥厚型心肌病基因的染色体定位，我们使用临床和分子遗传学技术来评估一个大家族的成员。20名幸存者和24名已故家庭成员患有肥厚性心肌病; 58名幸存成员未受影响。遗传连锁分析与多态性DNA位点分散在整个基因组，以确定一个基因座，遗传与肥厚型心肌病的家庭成员。通过计算lod评分（假设两个基因座在遗传上连锁，观察到两个基因座共同遗传的概率的对数，除以检测到共同遗传的概率，如果它们是非连锁的）来评估疾病基因座和多态基因座之间检测到的连锁的重要性。一个DNA位点（D14 S26），以前定位于14号染色体和未知的功能，被发现与该疾病的共同遗传在这个家庭。在家族性肥厚型心肌病的基因座和D14 S26之间没有观察到重组的情况，得到的lod得分为+9.37（θ）。= 0）的情况下。这些数据表明，在这个家族中，家族性肥厚型心肌病的基因位于14号染色体（q1带）的几率大于20亿：1。
To identify the chromosomal location of a gene responsible for familial hypertrophic cardiomyopathy, we used clinical and molecular genetic techniques to evaluate the members of a large kindred. Twenty surviving and 24 deceased family members had hypertrophic cardiomyopathy; 58 surviving members were unaffected. Genetic-linkage analyses were performed with polymorphic DNA loci dispersed throughout the entire genome, to identify a locus that was inherited with hypertrophic cardiomyopathy in family members. The significance of the linkage detected between the disease locus and polymorphic loci was assessed by calculating a lod score (the logarithm of the probability of observing coinheritance of two loci, assuming that they are genetically linked, divided by the probability of detecting coinheritance if they are unlinked). A DNA locus (D14S26), previously mapped to chromosome 14 and of unknown function, was found to be coinherited with the disease in this family. No instances of recombination were observed between the locus for familial hypertrophic cardiomyopathy and D14S26, yielding a lod score of +9.37 (.theta. = 0). These data indicate that in this kindred, the odds are greater than 2,000,000,000:1 that the gene responsible for familial hypertrophic cardiomyopathy is located on chromosome 14 (band q1).