Ginter E K, Budagova K A, Revazov A A, Petrin A N, Bugaeva E A
Genetika. 1986 Jul;22(7):1199-206.
Medical-genetic study was carried out in the population of Samarkand province (the population size about 150 000). Hereditary pathology was ascertained among families with two or more affected members with chronic diseases. 110 families with 210 patients were registered. The most frequent were autosomal-recessive disorders (42 nozological forms). 15 nozological forms are probably "new" conditions in this province, because they were absent in our previous medical-genetic study of this province. A tendency to local accumulation of families with the same disorder in small populations was observed. The load of autosomal-recessive disorders comprised 2.2 X 10(-3) affected, that of autosomal-dominant disorders being 0.51 X 10(-3) and of X-linked disorders being 0.25 X 10(-3) males. The importance of assortative maitings in manifestation of rare autosomal-recessive genes in Uzbek population is discussed.
在撒马尔罕省（人口约15万）的人群中开展了医学遗传学研究。在有两名或更多患有慢性病的患病成员的家庭中确定了遗传性病理学情况。登记了110个家庭的210名患者。最常见的是常染色体隐性疾病（42种疾病类型）。15种疾病类型可能是该省的“新”病症，因为在我们之前对该省的医学遗传学研究中未出现过。观察到在小群体中具有相同病症的家庭有局部聚集的趋势。常染色体隐性疾病的负担为每2.2×10⁻³人中有一名患者，常染色体显性疾病为每0.51×10⁻³人中有一名患者，X连锁疾病为每0.25×10⁻³名男性中有一名患者。讨论了选型婚配在乌兹别克人群中罕见常染色体隐性基因表现中的重要性。
