意大利人群中DNA标记与亨廷顿舞蹈病基因座之间的非随机关联。
Non-random association between DNA markers and Huntington disease locus in the Italian population.
作者信息
Novelletto A, Mandich P, Bellone E, Malaspina P, Vivona G, Ajmar F, Frontali M
机构信息
Dipartimento di Biologia, Università Tor Vergata, Roma, Italy.
出版信息
Am J Med Genet. 1991 Sep 1;40(3):374-6. doi: 10.1002/ajmg.1320400326.
A group of Huntington disease (HD) families of Italian ancestry was analyzed for 11 RFLPs from genetic loci mapped in 4p16 and genetically linked to the HD gene. We found a statistically significant difference of allele distributions in HD vs normal chromosomes for loci D4S10, D4S127, and D4S43. This observation increases the number of loci in linkage disequilibrium with HD. However, the amount of disequilibrium does not allow either a finer localization of the HD gene or a substantial improvement in risk calculations.
对一组具有意大利血统的亨廷顿舞蹈症（HD）家族进行了分析，检测了位于4p16且与HD基因存在遗传连锁关系的基因座上的11个限制性片段长度多态性（RFLP）。我们发现，对于基因座D4S10、D4S127和D4S43，HD染色体与正常染色体的等位基因分布存在统计学上的显著差异。这一观察结果增加了与HD处于连锁不平衡状态的基因座数量。然而，这种不平衡程度既无法实现对HD基因更精确的定位，也不能在风险计算方面带来实质性的改善。
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