Home - News ( United States | United Kingdom | Italy | Germany ) - Football scores

Showing content from https://link.springer.com/doi/10.1007/s004390050398 below:

Cystic fibrosis mutations and associated haplotypes in Bulgaria – a comparative population genetic study

We present data on the population genetics of cystic fibrosis (CF) in Bulgaria, obtained by comprehensive mutation analysis and the construction of intragenic microsatellite haplotypes. The sample of 262 CF alleles analysed is representative of the patients diagnosed during the period of referral and of the three main ethnic groups in the country. ΔF508 accounted for 100% of Gypsy CF alleles, which thus differed significantly from both Bulgarians and ethnic Turks. In Bulgarian and Turkish CF patients, 92% of the mutant alleles were identified, yielding a total of 25 different mutations, of which only 7 occurred at frequencies higher than 1%. The findings were compared to other European populations and to the distribution of phenylketonuria mutations. Genetic distances and population trees demonstrated that in the south-eastern tip of Europe, the overall distribution of CF mutations and polymorphic haplotypes is very close to that of Mediterranean populations, with a high frequency of N1303K and G542X, a large number of rare mutations and a prevalence of the 23 31 13 haplotype in association with ΔF508. These findings are consistent with a main role for the Neolithic expansion in the shaping of the CF mutation spectrum in Bulgaria and southern Europe.

This is a preview of subscription content, log in via an institution to check access.

Springer+ Basic

€34.99 /Month

• Get 10 units per month
• Download Article/Chapter or eBook
• 1 Unit = 1 Article or 1 Chapter
• Cancel anytime

Price includes VAT (Germany)

Instant access to the full article PDF.

Institutional subscriptions

1. Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynaecology, Sofia, Bulgaria, , , , , , BG

   Dora Angelicheva, Alexey Savov, Albena Jordanova, Petya Yankova & Luba Kalaydjieva

2. Department of Genetics, Yale University School of Medicine, New Haven, USA, , , , , , US

   Francesc Calafell

3. University Children’s Hospital, Sofia, Bulgaria, , , , , , BG

   Annie Kufardjieva & J. Galeva

4. Department of Pediatrics, Medical University, Pleven, Bulgaria, , , , , , BG

   Vania Nedkova

5. Genetic Counseling Unit, Burgas Regional Hospital, Burgas, Bulgaria, , , , , , BG

   Tanya Ivanova

6. Department of Genetics, Medical University, Varna, Bulgaria, , , , , , BG

   Dimitrina Konstantinova

7. Department of Pediatrics, Medical University, Plovdiv, Bulgaria, , , , , , BG

   Evgeny Genev

1. Dora Angelicheva
2. Francesc Calafell
3. Alexey Savov
4. Albena Jordanova
5. Annie Kufardjieva
6. Vania Nedkova
7. Tanya Ivanova
8. Petya Yankova
9. Dimitrina Konstantinova
10. Evgeny Genev
11. Luba Kalaydjieva
12. J. Galeva

Received: 1 September 1996

Angelicheva, D., Calafell, F., Savov, A. et al. Cystic fibrosis mutations and associated haplotypes in Bulgaria – a comparative population genetic study. Hum Genet 99, 513–520 (1997). https://doi.org/10.1007/s004390050398

Download citation

• Issue Date: March 1997

• DOI: https://doi.org/10.1007/s004390050398

RetroSearch is an open source project built by @garambo | Open a GitHub Issue

Search and Browse the WWW like it's 1997 | Search results from DuckDuckGo

HTML: 3.2 | Encoding: UTF-8 | Version: 0.7.4