Lege Artis Medicinae

[Evaluation of mutations in cystic fibrosis]

NÉMETI Margit1, PAPP Zoltán2

MARCH 31, 1992

Lege Artis Medicinae - 1992;2(03)

[The frequency of the most common mutations of the CFTR gene was studied in families having children with cystic fibrosis. This study included 40 Hungarian families with a total of 140 family members. The results of mutation and haplotype analysis demonstrate that the most frequent mutation in the Hungarian cystic fibrosis population is the F508 which accunts for 70% of all the mutations. The most frequently occurring haplotype is B: 95,7% of the F508 CF chromosomes and 36% of the non-F508 chromosomes are associated with the haplotype B (KM-19: allele 2, XV-2c: allele 1). The molecular genetic analysis of CF families based on the study of the CFTR gene's mutations makes possible an improved prenatal diagnosis in high risk pregnancies. ]

AFFILIATIONS

  1. Tudományos Munkatárs
  2. Egyetemi Tanár Semmelweis Orvostudományi Egyetem I. sz. Szülészeti és Nőgyógyászati Klinika Budapest

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