Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

@article{Chessa2009FounderEF,
  title={Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.},
  author={Luciana Chessa and Maria Piane and Monia Magliozzi and Isabella Torrente and Camilla Savio and Patrizia Lulli and Alessandro De Luca and Bruno Dallapiccola},
  journal={Annals of human genetics},
  year={2009},
  volume={73 Pt 5},
  pages={
          532-9
        }
}
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. Haplotype analysis was carried out in 48/63 families harbouring 16 of the 21… CONTINUE READING

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