| Autor: |
Mehmet Okyay Kilinc, Aslıhan Tolun, G. Glover, Teresa Casals, Fazilet Karakoc, Elif Dagli, Vasiliki Ninidu Ninis, J Pena, Xavier Estivill, J. Ferrer-Calvete, J L Seculi, Mübeccel Demirkol, Esen Demir, Ferda Ozkinay, I Kremenski, C Calvo, Gülden Huner, Alexey Savov, C Bousono |
| Rok vydání: |
2000 |
| Předmět: |
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| Zdroj: |
Journal of Medical Genetics. 37:307-309 |
| ISSN: |
1468-6244 |
| DOI: |
10.1136/jmg.37.4.307 |
| Popis: |
Editor—Cystic fibrosis (CF) is the most common lethal childhood disorder in white populations and occurs at a frequency of about 1/2500 with regional variations. Over 1000 mutations in the CF transmembrane conductance regulator ( CFTR ) gene accounting for the disease have been identified so far and the most common gene mutation is ΔF508.1 The frameshift mutation 2183AA→G in exon 13 was first described in three Canadian CF patients2 and later was shown to have a significant frequency in patients from mid and southern Europe. The frequency among CF patients is 9.3% in north east Italy,3 2.4% in the Tyrol,4 1-2.1% in Belgium,3 1.8% in Greece,5 1% in Bavaria, Bulgaria, and France,3 and 0.4% in mid and northern Germany.6 We identified three homozygotes among 120 Turkish patients (2.5%), two born to first cousin parents, three compound heterozygotes among 185 Bulgarian patients (0.8%), and seven compound heterozygotes among 650 Spanish patients (0.5%).7 The mutation was detected by denaturing gradient gel electrophoresis or single strand conformational analysis followed by DNA sequence analysis. We report here the genotype-phenotype correlation in 12 patients with CF with the mutation 2183AA→G (three homozygous and nine compound heterozygous for 2183AA→G and other mutations). The anamnestic, clinical, and laboratory data are summarised in table 1. Pancreatic insufficiency (PI) was assessed by the fat content of stools and requirement of pancreatic enzyme replacement therapy. Gastrointestinal symptoms (GI) are abdominal cramps and … |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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