Spatial patterns of cystic fibrosis mutation spectra in European populations

European Journal of Human Genetics

Volumn 11, Issue 5, 2003, Pages 385-394

  Lao, Oscar ^a   Andrés, Aida M ^a   Mateu, Eva ^a   Bertranpetit, Jaume ^a   Calafell, Francesc ^a  

^a UNIVERSITAT POMPEU FABRA   (Spain)

Author keywords

Cystic fibrosis; Effective population size; Europe; Genetic diversity; Mutation spectra; Spatial autocorrelation; Spatial patterns

Indexed keywords

MITOCHONDRIAL DNA;

CONTROLLED STUDY; CYSTIC FIBROSIS; EUROPE; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HUMAN; MUTATION RATE; POPULATION DISTRIBUTION; POPULATION RESEARCH; POPULATION SIZE; PRIORITY JOURNAL; REVIEW; SPATIAL AUTOCORRELATION ANALYSIS; Y CHROMOSOME;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EUROPE; GENETICS, POPULATION; GEOGRAPHY; HUMANS; MUTATION;

EID: 0038412795     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200970     Document Type: Review

References (58)

1. Cystic Fibrosis Mutation Data Base. 2002.
2. Lucotte G, Hazout S, De Braekeleer M: Complete map of cystic fibrosis mutation DF508 frequencies in Western Europe and correlation between mutation frequencies and incidence of disease. Hum Biol 1995; 67: 797-803.
3. Bertranpetit J, Calafell F: Genetic and geographical variability in cystic fibrosis: evolutionary considerations. Ciba Found Symp 1996; 197: 97-114.
4. Gabriel SE, Brigman KN, Koller BH, Boucher RC, Stutts MJ: Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science 1994; 266: 107-109.
5. Pier GB, Grout M, Zaidi T et al: Salmonella typhi uses CFTR to enter intestinal epithelial cells. Nature 1998; 393: 79-82.
6. Pier GB: Role of the cystic fibrosis transmembrane conductance regulator in innate immunity to Pseudomonas aeruginosa infections. Proc Natl Acad Sci USA 2000; 97: 8822-8828.
7. Reich DE, Lander ES: On the allelic spectrum of human disease. Trends Genet 2001; 17: 502-510.
8. Bombieri C, Pignatti PF: Cystic fibrosis mutation testing in Italy. Genet Test 2001; 5: 229-233.
9. Scotet V, De Braekeleer M, Roussey M et al: Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis. Lancet 2000; 356: 789-794.
10. Asensio D, Cobos N, Seculi J et al: Programa de cribaje neonatal para la fibrosis quística en Cataluña. Invest Clin 2001; 4 (Suppl 1): 82-83.
11. Cristol P, Des GM, Levy A, Sahuc P: Value of neonatal screening for cystic fibrosis. Evaluation of a neonatal screening program including 34,522 neonates (author's transl). Semin Hop 1982; 58: 499-555.
12. Nazer HM: Early diagnosis of cystic fibrosis in Jordanian children. J Trop Pediatr 1992; 38: 113-115.
13. Cassio A, Bernardi F, Piazzi S et al: Neonatal screening for cystic fibrosis by dried blood spot trypsin assay. Results in 47 127 newborn infants from a homogeneous population. Acta Paediatr Scand 1984; 73: 554-558.
14. Edminson PD, Michalsen H, Aagenaes O, Lie SO: Screening for cystic fibrosis among newborns in Norway by measurement of serum/plasma trypsin-like immunoreactivity. Results of a 2 1/2-year pilot project. Scand J Gastroenterol Suppl 1988; 143: 13-18.
15. Roberts G, Stanfield M, Black A, Redmond A: Screening for cystic fibrosis: a four year regional experience. Arch Dis Child 1988; 63: 1438-1443.
16. Cashman SM, Patino A, Delgado MG, Byrne L, Denham B, De Arce M: The Irish cystic fibrosis database. J Med Genet 1995; 32: 972-975.
17. Nielsen OH, Thomsen BL, Green A, Andersen PK, Hauge M, Schiotz PO: Cystic fibrosis in Denmark 1945 to 1985. An analysis of incidence, mortality and influence of centralized treatment on survival. Acta Paediatr Scand 1988; 77: 836-841.
18. de Vries HG, Collee JM, de Walle HE et al: Prevalence of delta F508 cystic fibrosis carriers in The Netherlands: logistic regression on sex, age, region of residence and number of offspring. Hum Genet 1997; 99: 74-79.
19. Petrova NV, Ginter EK: Determination of the frequency of the deltaF508 mutation among newborns in the city of Moscow and evaluation of the frequency of cystic fibrosis in the European part of Russia. Genetika 1997; 33: 1326-1328.
20. Brock DJ, Gilfillan A, Holloway S: The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies. Clin Genet 1998; 53: 47-49.
21. Dodge JA, Morison S, Lewis PA et al: Incidence, population, and survival of cystic fibrosis in the UK 1968-1995. UK Cystic Fibrosis Survey Management Committee. Arch Dis Child 1997; 77: 493-496.
22. Kerem E, Kalman YM, Yahav Y et al: Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel. Hum Genet 1995; 96: 193-197.
23. Frequency of Inherited Disorders Database© (FIDD). 2002.
24. Schneider S, Roessli D, Excoffier L. Arlequin ver. 2000: A Software for Population Genetics data ANALYSIS. Switzerland: Genetics and Biometry Laboratory, University of Geneva, 2000.
25. Zouros E: Mutation rates, population sizes and amounts of electrophoretic variation of enzyme loci in natural populations. Genetics 1979; 92: 623-646.
26. Chakraborty R, Weiss KM: Genetic variation of the mitochondrial DNA genome in American Indians is at mutation-drift equilibrium. Am J Phys Anthropol 1991; 86: 497-506.
27. Le Marechal C, Audrezet MP, Quere I, Raguenes O, Langonne S, Ferec C: Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum Genet 2001; 108: 290-298.
28. Sokal RR, Oden NL: Spatial autocorrelation in biology 1, Methodology. Biol J Linn Soc 1978; 10: 199-228.
29. Barbujani G: Geographic patterns: how to identify them and why. Hum Biol 2000; 72: 133-153.
30. Reynolds J, Weir BS, Cockerham CC: Estimation for the coancestry coefficient: basis for a short-term genetic distance. Genetics 1983; 105: 767-779.
31. Cavalli-Sforza LL, Menozzi P, Piazza A: History and geography of human genes. Princeton: Princeton University Press, 1994.
32. Mantel N: The detection of disease clustering and a generalized regression approach. Cancer Res 1967; 27: 209-220.
33. Smouse PE, Long JC, Sokal RR: Multiple regression and correlation extensions of the Mantel test of matrix correspondence. Syst Zool 1986; 35: 627-632.
34. Rosser ZH, Zerjal T, Hurles ME et al: Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet 2000; 67: 1526-1543.
35. Orekhov V, Poltoraus A, Zhivotovsky LA, Spitsyn V, Ivanov P, Yankovsky N: Mitochondrial DNA sequence diversity in Russians. FEBS Lett 1999; 445: 197-201.
36. Richards M, Macaulay V, Hickey E et al: Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 2000; 67: 1251-1276.
37. Simoni L, Calafell F, Pettener D, Bertranpetit J, Barbujani G: Geographic patterns of mtDNA diversity in Europe. Am J Hum Genet 2000; 66: 262-278.
38. Barbujani G: Autocorrelation of gene frequencies under isolation by distance. Genetics 1987; 117: 777-782.
39. Savov A, Angelicheva D, Balassopoulou A, Jordanova A, Noussia-Arvanitakis S, Kalaydjieva L: Double mutant alleles: are they rare? Hum Mol Genet 1995; 4: 1169-1171.
40. Cavalli-Sforza LL, Bodmer WF: The genetics of human populations. San Francisco: Freeman, 1971.
41. Przeworski M, Wall JD: Why is there so little intragenic linkage disequilibrium in humans? Genet Res 2001; 77: 143-151.
42. Torroni A, Bandelt HJ, D'Urbano L et al: mtDNA analysis reveals a major late Pleistocene population expansion from southwestern to northeastern Europe. Am J Hum Genet 1998; 62: 1137-1152.
43. Torroni A, Richards M, Macaulay V et al: mtDNA haplogroups and frequency patterns in Europe. Am J Hum Genet 2000; 66: 1173-1177.
44. Semino O, Passarino G, Oefner PJ et al: The genetic legacy of Paleolithic Homo sapiens sapiens in extant Europeans: a Y chromosome perpective. Science 2000; 290: 1155-1159.
45. Ammerman AJ, Cavalli-Sforza LL: The Neolithic transition and the genetics of populations in Europe. Princeton: Princeton University Press, 1984.
46. Seielstad MT, Minch E, Cavalli-Sforza LL: Genetic evidence for a higher female migration rate in humans. Nat Genet 1998; 20: 278-280.
47. Perez-Lezaun A, Calafell F, Comas D et al: Sex-specific migration patterns in Central Asian populations revealed by the analysis of Y-chromosome STRs and mtDNA. Am J Hum Genet 1999; 65: 208-219.
48. Excoffier L, Smouse PE, Quattro JM: Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 1992; 131: 479-491.
49. Stuhrmann M, Dork T, Fruhwirth M et al: Detection of 100% of the CFTR mutations in 63 CF families from Tyrol. Clin Genet 1997; 52: 240-246.
50. Messiaen L, Van Loon C, Rossau R et al: Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT. Hum Mutat 1997; 10: 236-238.
51. Angelicheva D, Calafell F, Savov A et al: Cystic fibrosis mutations and associated haplotypes in Bulgaria - a comparative population genetic study. Hum Genet 1997; 99: 513-520.
52. Hughes DJ, Hill AJ, Macek Jr M, Redmond AO, Nevin NC, Graham CA: Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. Hum Mutat 1996; 8: 340-347.
53. Desgeorges M, Megarbane A, Guittard C et al: Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. Hum Genet 1997; 100: 279-283.
54. Telleria JJ, Alonso MJ, Calvo C, Alonso M, Blanco A: Spectrum of CFTR mutations in the Middle North of Spain and identification of a novel mutation (1341G->A). Mutation in brief no. 252. Online. Hum Mutat 1999; 14: 89.
55. Messaoud T, Verlingue C, Denamur E et al: Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. Eur J Hum Genet 1996; 4: 20-24.
56. Kilinc MO, Ninis VN, Dagli E et al: Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients. Am J Med Genet 2002; 113: 250-257.
57. Livshits LA, Kravchenko SA: Cystic fibrosis in Ukraine: age, origin and tracing of the delta F508 mutation. Gene Geogr 1996; 10: 219-227.
58. Estivill X, Bancells C, Ramos C: Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat 1997; 10: 135-154.