Homozygosity mapping: One more tool in the clinical geneticist's toolbox

被引:97
作者
Alkuraya, Fowzan S. [1 ,2 ,3 ,4 ]
机构
[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia
[2] King Khalid Univ Hosp, Dept Pediat, Riyadh 11472, Saudi Arabia
[3] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia
[4] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia
关键词
runs of homozygosity; genetic heterogeneity; inborn errors of metabolism; PARENTAL CONSANGUINITY; BIRTH-DEFECTS; POPULATIONS; DISORDERS; COMMUNITY; MUTATION; CHILDREN; DISEASE;
D O I
10.1097/GIM.0b013e3181ceb95d
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Consanguinity increases the coefficient of inbreeding, which increases the likelihood of presence of pathogenic mutations in a homoallelic state. Although this is known to have an adverse outcome by increasing the risk of autosomal recessive disorders, this very phenomenon has also made homozygosity mapping the most robust gene discovery strategy in the recent history of human genetics. However, homozygosity mapping can also serve as an extremely powerful tool in the clinical genetics setting as well. In particular, this method is highly suited in the setting of genetically heterogeneous conditions and inborn errors of metabolism that require sophisticated biochemical testing that may not be readily available. This article is meant to highlight the clinical utility of this strategy using illustrative clinical examples from the author's own clinical genetics practice. Genet Med 2010: 12(4): 236-239.
引用
收藏
页码:236 / 239
页数:4
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