Galkina V A, Petrin A N, Golubtsov V I
Genetika. 1991 May;27(5):903-10.
Medico-genetical examination of children from 6 invalid houses, 2 asylum houses, 3 internate schools and 1 house for deaf and feeble-hearing children as well as from the internate school for children with poor vision was undertaken in Krasnodar district. 10.6% of the children were found to have chromosomal abnormality, 26.5%--multifactorial pathology and 62.9% of children were affected by monogenic diseases. The spectrum of diseases covers 20 forms, 8 of them being autosomal-dominant, 10--autosomal-recessive and 2--X-linked forms. A "selective" method presented in this article for revealing patients affected by genetical diseases in specialised institutions permitted to evaluate a portion of the patients having been not identified when using the "survey" expeditional method of population--epidemiological study of the district population. This portion constitutes 19%. The more accurate values of genetic load in populations of Krasnodar district were obtained, being 1.06-0.06 for autosomal-dominant, 0.78-0.05 for autosomal-recessive and 0.38-0.05 for X-linked diseases per thousand.
在克拉斯诺达尔地区,对来自6所残疾儿童之家、2所收容所、3所寄宿学校、1所聋哑儿童学校以及1所视力不佳儿童寄宿学校的儿童进行了医学遗传学检查。结果发现,10.6%的儿童存在染色体异常,26.5%的儿童患有多因素疾病,62.9%的儿童患有单基因疾病。疾病谱涵盖20种类型,其中8种为常染色体显性遗传,10种为常染色体隐性遗传,2种为X连锁遗传。本文介绍的一种用于在专科医院中发现遗传疾病患者的“选择性”方法,使得在使用该地区人群的“普查”快速方法进行人群流行病学研究时,能够评估一部分未被识别的患者。这部分患者占19%。由此得出了克拉斯诺达尔地区人群中更为准确的遗传负荷值,常染色体显性遗传疾病每千人中为1.06 - 0.06,常染色体隐性遗传疾病为0.78 - 0.05,X连锁遗传疾病为0.38 - 0.05。