Article
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
Annals of human genetics - 1 Sept 2009
Chessa Luciana, Piane Maria, Magliozzi Monia, Torrente Isabella, Savio Camilla, Lulli Patrizia, De Luca Alessandro, Dallapiccola Bruno
Abstract excerpt
We screened ATM gene mutations in 104 Italian Ataxia-Telangiectasia patients from 91 unrelated families (detection rate 90%) and found 21 recurrent mutations in 63 families. The majority (67%) of patients were compound heterozygotes, while 33% were homozygotes. To determine the existence of common haplotypes and potential founder effects, we analyzed five microsatellite markers within and flanking the ATM gene....
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