| Autor: |
Syrrou M; Laboratory of General Biology, Medical School, University of Ioannina, Greece., Patsalis PC, Georgiou I, Hadjimarcou MI, Constantinou-Deltas CD, Pagoulatos G |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 1996 Jul 12; Vol. 64 (1), pp. 234-8. |
| DOI: |
10.1002/(SICI)1096-8628(19960712)64:1<234::AID-AJMG42>3.0.CO;2-L |
| Abstrakt: |
The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR-1 gene provides evidence of a limited number of "founder" chromosomes and predisposing high-risk haplotypes related to the mutation. To investigate the origin of mutations in the fragile X syndrome in the Hellenic populations of Greece and Cyprus, we studied the alleles and haplotypes at DXS548 and FRAXAC2 loci of 16 independent fragile X and 70 normal control chromosomes. In addition, we studied 191 unrelated normal X chromosomes for the distribution and frequencies of CGG alleles. At DXS548, 6 alleles were found, 2 (194 and 196) of which were represented on fragile X chromosomes. At FRAXAC2, 6 alleles were found, 4 of which were present on fragile X chromosomes. Sixteen haplotypes were identified, but only 5 were present on fragile X chromosomes. The highest number of CGG repeats (> or = 33) were associated with haplotypes 194-147, 194-151, 194-153, and 204-155. The data provide evidence for founder chromosomes and high-risk haplotypes in the Hellenic population. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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