Abstract:
: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 recurrent mutations. Forty different haplotypes were detected in the 48 A-T families studied. We found that the majority of patients with the same recurrent mutation originated from the same geographical area. All but one recurrent mutation analyzed displayed a common haplotype suggesting a single origin that then spread to different geographical areas. The high number of different haplotypes does not allow the screening of ATM mutations by haplotype analysis alone in the Italian population. The finding of recurrent public mutations without founder effect suggests the existence of 'mild' hot spots of mutation located along the sequence of the ATM gene.
journal_name
Ann Hum Genetjournal_title
Annals of human geneticsauthors
Chessa L,Piane M,Magliozzi M,Torrente I,Savio C,Lulli P,De Luca A,Dallapiccola Bdoi
10.1111/j.1469-1809.2009.00535.xsubject
Has Abstractpub_date
2009-09-01 00:00:00pages
532-9issue
Pt 5eissn
0003-4800issn
1469-1809pii
AHG535journal_volume
73pub_type
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