Zlotogora Joel
Department of Community Genetics, Public Health Services, Ministry of Health, Tel Aviv, Israel.
Hum Genet. 2004 May;114(6):521-6. doi: 10.1007/s00439-004-1105-y. Epub 2004 Mar 16.
Classically, each parent of a child with an autosomal recessive disease has been considered to carry at least one copy of the abnormal allele. However, with the increasing ability to characterise the molecular basis of genetic diseases, several exceptions have been reported. The most frequent situation is that only one parent is a carrier of the mutation that is present in the patient in two copies either because of uniparental disomy or because of a de-novo mutation on the gene transmitted by the non-carrier parent. In order to give accurate genetic counselling, in particular when prenatal diagnosis is envisaged, molecular analysis of each of the parents of a child affected with an autosomal recessive disease must be routinely performed.
传统上，常染色体隐性疾病患儿的每位父母都被认为至少携带一份异常等位基因。然而，随着对遗传疾病分子基础进行特征描述的能力不断提高，已报道了一些例外情况。最常见的情况是，只有一位父母是患者体内存在的两份突变的携带者，这要么是由于单亲二体，要么是由于非携带者父母传递的基因发生了新发突变。为了提供准确的遗传咨询，特别是在考虑进行产前诊断时，必须对常染色体隐性疾病患儿的每位父母进行常规分子分析。
