A haplotype framework for cystic fibrosis mutations in Iran

Journal of Molecular Diagnostics

Volumn 8, Issue 1, 2006, Pages 119-127

  Elahi, Elahe ^a,b,c   Khodadad, Ahmad ^d   Kupershmidt, Ilya ^e   Ghasemi, Fereshteh ^a,b   Alinasab, Babak ^c   Naghizadeh, Ramin ^a   Eason, Robert G ^c   Amini, Mahshid ^f   Esmaili, Mehran ^g   Esmaeili Dooki, Mohammad R ^h   Sanati, Mohammad H ^b   Davis, Ronald W ^c   Ronaghi, Mostafa ^c   Thorstenson, Yvonne R ^c  

^a UNIVERSITY OF TEHRAN   (Iran)

^b NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e Silicon Genetics   (United States)

^f SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^g ISFAHAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^h BABOL UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYSTEINE; GLYCINE; NUCLEOTIDE; PHENYLALANINE; THREONINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ALLELE; ARTICLE; CHROMOSOME IDENTIFICATION; CONTROLLED STUDY; CYSTIC FIBROSIS; EXON; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC POLYMORPHISM; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; IRAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; POPULATION RESEARCH; QUANTITATIVE ANALYSIS; SEQUENCE ANALYSIS;

EID: 32944478901     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2006.050063     Document Type: Article

References (60)

1. Rowntree RK, Harris A: The phenotypic consequences of CFTR mutations. Ann Hum Genet 2003, 67:471-485
2. Welsh M, Tsui L, Boat T, Beaudet A: Cystic Fibrosis. The Metabolic and Molecular Bases of Inherited Disease. Edited by C Scriver, A Beaudet, W Sly, D Valle. New York, McGraw-Hill, 1995, pp. 3799-3876
3. Farrell P: Improving the health of patients with cystic fibrosis through newborn screening. Adv Pediatr 2000, 49:79-115
4. Dawson K, Frossard P: The geographic distribution of cystic fibrosis mutations gives clues about population origins. Eur J Pediatr 2000, 159:496-499
5. Kerem B, Rommens J, Buchanan J, Markiewcz D, Cox T, Chakravarti A, Buchwald M, Tsui L: Identification of the cystic fibrosis gene: genetic analysis. Science 1989, 245:1073-1080
6. Bobadilla JL, Macek M Jr, Fine JP, Farrell PM: Cystic fibrosis: a worldwide analysis of CFTR mutations - correlation with incidence data and application to screening. Hum Mutat 2002, 19:575-606
7. European Working Group on CF Genetics: Gradient of distribution in Europe of the major CF mutation and its associated haplotypes. Hum Genet 1990, 85: 436-445
8. 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
9. Kilinç M, Ninis V, Dagli E, Demirkol M, Özkinay F, Arikan Z, Çogulu Ö, Hüner G, Karakoç F, Tolun A: Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients. Am J Hum Genet 2002, 113:250-257
10. Pier G: Role of the cystic fibrosis transmembrane conductance regulator in innate immunity to Pseudomonas aeruginosa infections. Proc Natl Acad Sci USA 2000, 97:8822-8828
11. Lyczak J, Pier G: Salmonella enterica serovar Typhi modulates cell surface expression of its receptor, the cystic fibrosis transmembrane regulator, on the intestinal epithelium. Infect Immun 2002, 70:6416-6423
12. Estivill X, Bancells C, Ramos C, the Biomed CF Mutation Analysis Consortium: Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum Mutat 1997, 10:135-154
13. Mateu E: Can a place of origin of the main cystic fibrosis mutations be identified? Am J Hum Genet 2002, 70:257-264
14. Jalalirad M, Houshmand M, Mirfakhraie R, Goharbari MH, Mirzajani F: First study of CF mutations in the CFTR gene of Iranian patients: detection of DF508, G542X, W1282X, A120T, R117H, and R347H mutations. J Trop Pediatr 2004, 50:359-361
15. Naghizadeh R, Elahi E: Determination of the frequency of the ΔF508 mutation amongst Iranian cystic fibrosis patients and the detection of carriers of this mutation using the ARMS-PCR protocol. Med J Islam Repub Iran 1999, 16:278-286
16. Schales O, Scales S: A simple and accurate method for the determination of chloride in biological fluids. J Biol Chem 1941, 140:879-884
17. Miller S, Dykes D, Polesky H: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988, 16:1215
18. Maréchal C, Audrézet M, Quéré I, Raguénès O, Langonné S, Férec C: Complete and rapid scanning of the cystic fibrosis transmembrane regulator (CFTR) gene by denaturing high performance liquid chromatography (D-HPLC). Hum Genet 2001, 108:290-298
19. Zielenski J, Rozmahel R, Bozon D, Kerem B, Grzelczak Z, Riordan J, Rommens J, Tsui L: Genomic DNA sequencing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 1991, 10:214-228
20. Dörk T, Neumann T, Wulbrand U, Wulf B, Kalin N, Maass G, Krawczak M, Guillermit H, Ferec C, Horn G: Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Hum Genet 1992, 88:417-425
21. Lee JH, Choi JH, Namkung W, Hanrahan JW, Chang J, Song SY, Park SW, Kim DS, Yoon JH, Suh Y, Jang IJ, Nam JH, Kim SJ, Cho MO, Lee JE, Kim KH, Lee MG: A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. Hum Mol Genet 2003, 12:2321-2332
22. Excoffier L, Slatkin M: Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 1995, 12:921-927
23. Reich D: Linkage disequilibrium in the human genome. Nature 2001, 411:199-204
24. Rioux J: Hierarchical linkage disequilibrium mapping of a susceptibility gene for Crohn's disease to the cytokine cluster on chromosome 5. Nat Genet 2001, 29:223-228
25. Daly M, Rioux J, Schaffner S, Hudson T, Lander E: High-resolution haplotype structure in the human genome. Nat Genet 2001, 29:229-232
26. Mani A, Meraji S-M, Houshyar R, Radhakrishnan J, Mani A, Ahangar M, Rezaie T, Taghavinejad M-A, Broumand B, Zhao H, Nelson-Williams C, Lifton R: Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriousus. Proc Natl Acad Sci USA 2002, 99:15054-15059
27. ACMG Laboratory Practice Committee Working Group: ACMG recommendations for standards for interpretation of sequence variations. Genet Med 2000, 2:302-303
28. Banjar H, Kambouris M, Meyer BF, al-Mehaidib A, Mogarri I: Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. Ann Trop Paediatr 1999, 19:69-73
29. Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserili H, Camcioglu Y, Cokugras H, Akcakaya N, Apak M, Tsui L, Kirdar B: Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC; P1013L; M1028I). Hum Genet 1998, 10:224-230
30. Banjar H: Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia. East Mediterr Health J 1999, 5:1230-1235
31. Xiong X, Bragin A, Widdicombe JH, Cohn J, Skach WR: Structural cues involved in endoplasmic reticulum degradation of G85E and G91R mutant cystic fibrosis transmembrane conductance regulator. J Clin Invest 1997, 100:1079-1088
32. Yue H, Devidas S, Guggino WB: The two halves of CFTR form a dual-pore ion channel. J Biol Chem 2000, 275:10030-10034
33. Zielenski J, Tsui LC: Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 1995, 29:777-807
34. Claustres M, Altieri JP, Guittard C, Templin C, Chevalier-Porst F, Des Georges M: Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? BMC Med Genet 2004, 5:19
35. Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankeerberghen A, Jorissen M, Droogmans G, Reynaert I, Goossens M, Nilius B, Cassiman JJ: Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes: the polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest 1998, 101:487-496
36. de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M: Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD. J Med Genet 1998, 35:594-596
37. Wang X, Moylan B, Leopold DA, Kim J, Rubenstein RC, Togias A, Proud D, Zeitlin PL, Cutting GR: Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. JAMA 2000, 284:1814-1819
38. Ahn KM, Park HY, Lee JH, Lee MG, Kim JH, Kang IJ, Lee SI: Cystic fibrosis in Korean children: a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis. J Korean Med Sci 2005, 20:153-157
39. Eskandarani HA: Cystic fibrosis transmembrane regulator gene mutations in Bahrain. J Trop Pediatr 2002, 48:348-350
40. Desgeorges M, Megarbane A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M: Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. Hum Genet 1997, 100:279-283
41. Wahab A, Al Thani G, Dawod ST, Kambouris M, Al Hamed M: Rare CFTR mutation 1525-1G>A in a Pakistani patient. J Trop Pediatr 2004, 50:120-122
42. el-Harith EA, Dork T, Stuhrmann M, Abu-Srair H, al-Shahri A, Keller KM, Lentze MJ, Schmidtke J: Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. J Med Genet 1997, 34:996-999
43. Mateu E, Calafell F, Lao O, Bonne-Tamir B, Kidd JR, Pakstis A, Kidd KK, Bertranpetit J: Worldwide genetic analysis of the CFTR region. Am J Hum Genet 2001, 68:103-117
44. Mateu E, Calafell F, Bonne-Tamir B, Kidd JR, Casals T, Kidd KK, Bertranpetit J: Allele frequencies in a worldwide survey of a CA repeat in the first intron of the CFTR gene. Hum Hered 1999, 49:15-20
45. Morral N, Bertranpetit J, Estivill X, Nunes V, Casals T, Gimenez J, Reis A, Varon-Mateeva R, Macek M, Kalaydjieva L, Angelicheva D, Dancheva R, Romeo G, Russo M, Garnerone S, Restagno G, Rerrari M, Magnani C, Claustres M, Desgeorges M, Schwartz M, Dallapiccola B, Novelli G, Ferec C, de Arce M, Kere J, Anvret M, Dahl N, Kadasi L: The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat Genet 1994, 7:169-175
46. Chehab F, Johnson J, Louie E, Goossens M, Kawasaki E, Erlich H: A dimorphic 4-bp repeat in the cystic fibrosis gene is in absolute linkage disequilibrium with the ΔF508 mutation: implications for parental diagnosis and mutation mutation origin. Am J Hum Genet 1991, 48:223-226
47. Korytina G, Viktorova T, Baikova G, Khusnutdinova E: Analysis of the spectra of mutations and polymorphic loci of cystic fibrosis transmembrane conductance regulator in the population of Bashkortostan. Genetika 2002, 38:1270-1275
48. de Vries HG, van der Meulen MA, Rozen R, Halley DJ, Scheffer H, ten Kate LP, Buys CH, te Meerman GJ: Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations. Hum Genet 1996, 98:304-309
49. Dörk T, Fislage R, Neumann T, Wulf B, Tummler B: Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations. Hum Genet 1994, 93:67-73
50. Chakraborty R, Kimmel M, Stivers DN, Davison LJ, Deka R: Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci. Proc Natl Acad Sci USA 1997, 94:1041-1046
51. Loirat F, Hazout S, Lucotte G: G542X as a probable Phoenician cystic fibrosis mutation. Hum Biol 1997, 69:419-425
52. Chillon M, Casals T, Gimenez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V: Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Hum Genet 1994, 93:447-451
53. Laufer-Cahana A, Lerer I, Sagi M, Rachmilewitz-Minei T, Zamir C, Rivlin JR, Abeliovich D: Cystic fibrosis mutations in Israeli Arab patients. Hum Mutat 1999, 14:543
54. Frossard PM, Hertecant J, Bossaert Y, Dawson KP: Genotype-phenotype correlations in cystic fibrosis: clinical severity of mutation S549R(T→G). Eur Respir J 1999, 13:100-102
55. Messaoud T, Verlingue C, Denamur E, Pascaud O, Quere I, Fattoum S, Elion J, Ferec C: 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. Loumi O, Baghriche M, Delpech M, Kaplan JC, Bienvenu T: Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families. Hum Hered 1999, 49:81-84
57. Chiba-Falek O, Nissim-Rafinia M, Argaman Z, Genem A, Moran I, Kerem E, Kerem B: Screening of CFTR mutations in an isolated population: identification of carriers and patients. Eur J Hum Genet 1998, 6:181-184
58. Schrijver I, Ramalingam S, Sankaran R, Swanson S, Dunlop CLM, Keiles S, Moss RB, Oehlert J, Gardner P, Wassman ER, Kammesheidt A: Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. J Mol Diagn 2005, 7:289-299
59. D'Apice MR, Gambardella S, Bengala M, Russo S, Nardone AM, Lucidi V, Sangiuolo F, Novelli G: Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy. BMC Med Genet 2004, 5:8
60. Ravnik-Glavac M, Atkinson A, Glavac D, Dean M: DHPLC screening of cystic fibrosis gene mutations. Hum Mutat 2002, 19:374-383