Linkage analysis of neurofibromatosis type 1 |
| |
Authors: | Maurizio Clementi Alessandra Murgia Franca Anglani Romano Tenconi Licia Turolla Luigi Picci Franco Zacchello |
| |
Institution: | (1) Department of Medical Genetics, Institut of Pediatrics, Medical Academy, PL-30-050 Krakow, Poland;(2) Institut für Humangenetik der Universität, Vesaliusweg 12-14, W-4400 Münster, Germany |
| |
Abstract: | Summary In order to investigate the molecular basis of phenylketonuria (PKU) in the Polish population, we screened 44 mutant chromosomes from PKU probands for six known mutations, frequently occurring in western European countries, by polymerase chain reaction amplification of their genomic DNA and hybridization with allele-specific oligonucleotides. Our results show that the majority (66%) of all PKU alleles are characterized by three different mutations: in codon 408 (56.8%), codon 158 (6.8%) and codon 261 (2.27%). Of the mutant haplotype 2 alleles, 96% were linked to the mutation in codon 408. Out of five mutant haplotype 4 alleles, three showed the codon 158 mutation, and out of four mutant haplotype 1 alleles, one had the codon 261 mutation. In two families, MspI digests revealed an additional 13.5-kb band similar in length to that previously reported. However, analysis of exon 9 excluded the presence of the T to C transition originally described, indicating a new MspI variant in the Polish population. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|