Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence for founder effect and genomic recombination at the CA II locus
作者： D. M. Fathallah , Mohamed Bejaoui , Denis Lepaslier , Khelifa Chater , William S. Sly
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摘要: A splice junction mutation at the exon 2 – intron boundary of carbonic anhydrase II (CA II) gene was previously shown to be unique underlying CA deficiency syndrome in patients Arab descent. Fourteen Tunisian (Maghrebian) families with a history osteopetrosis, renal tubular acidosis, mental retardation, and were studied test hypothesis that mutation, found all 24 patients, derived from common ancestor originating Arabic Peninsula. filiation study permitted us trace these back tribe settled Maghreb tenth century, indicating ethnic origin for families. Segregation TaqI biallelic restriction site polymorphism upstream by sequence-tagged analysis family members. These studies showed cosegregation Taq (-) allele 12 out 14. This observation supports founder effect explain this population. In remaining two families, genomic recombination or conversion occurred between marker causing disease. The relatively high frequency suggests presence hot spot locus.
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