Genetic Compensation in a Human Genomic Disorder
Genetic Compensation in a Human Genomic Disorder
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DOI：
10.1056/nejmoa0806544
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发表时间：
2009-03-19
影响因子：
158.5
通讯作者：
Flori, Elisabeth
中科院分区：
文献类型：
--
作者：
Carelle-Calmels, Nadege;Saugier-Veber, Pascale;Flori, Elisabeth
对一名患有 DiGeorge（或腭心面）综合征的女孩（其 22q11.2 存在缺失）的父母进行的细胞遗传学研究显示，未患病父亲的 22q11.2 两个区域都出现了意外的重排。他在 22 号染色体的一个拷贝上携带 22q11.2 缺失，在 22 号染色体的另一拷贝上携带 22q11.2 重复。通过对位于与 DiGeorge 综合征相关的遗传区域内的基因进行定量表达分析，显示了与父亲的正常表型一致的遗传补偿。这一发现对遗传咨询具有重要意义，并代表了人类基因组疾病中遗传补偿的一个案例。
Cytogenetic studies of the parents of a girl with the DiGeorge (or velocardiofacial) syndrome, who carried a deletion at 22q11.2, revealed an unexpected rearrangement of both 22q11.2 regions in the unaffected father. He carried a 22q11.2 deletion on one copy of chromosome 22 and a reciprocal 22q11.2 duplication on the other copy of chromosome 22. Genetic compensation, which is consistent with the normal phenotype of the father, was shown through quantitative-expression analyses of genes located within the genetic region associated with the DiGeorge syndrome. This finding has implications for genetic counseling and represents a case of genetic compensation in a human genomic disorder.