Molecular basis of cystic fibrosis disease: An Indian perspective

Indian Journal of Clinical Biochemistry

Volumn 25, Issue 4, 2010, Pages 335-341

  Prasad, R ^a   Sharma, H ^a   Kaur, G ^b  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

^b GOVERNMENT MEDICAL COLLEGE AND HOSPITAL   (India)

Author keywords

CFTR; Congenital absence of vas deferens (CAVD); Cystic fibrosis; Delta F508

Indexed keywords

EID: 84897964401     PISSN: 09701915     EISSN: 09740422     Source Type: Journal    
DOI: 10.1007/s12291-010-0091-1     Document Type: Review

References (46)

1. Prasad R, Marwaha RK, Kaur G, Walia BNS. Spectrum of biochemical genetic diseases in North India. Med Sci Res. 1998;26:455-6. (Pubitemid 28379578)
2. Bhakoo ON, Kumar R, Walia BNS. Mucoviscidosis of the lung. Indian Pediatr. 1968;35:183-5.
3. Goodchild MC, Hansley J, Rushton DI, Gaze H. Cystic fibrosis in three Pakistani children. Arch Dis Child. 1974;49:739-41.
4. Powers CA, Potter EM, Wessel HU, Lloyd-Still JD. Cystic fibrosis in Asian Indians. Arch Pediatr Adolesc Med. 1996;150:554-5. (Pubitemid 26139414)
5. Andersen DH. Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study. Am J Dis Child. 1938;56:344-99.
6. Farber S. Some organic digestive disturbances in early life. J Mich Med Soc. 1945;44:587-94.
7. Di Sant'Agnese PA, Darling RC, Perera GA, Shea E. Abnormal electrolytic composition of sweat in cystic fibrosis of the pancreas. Clinical significance and relationship of the disease. Pediatrics. 1953;12:549-63.
8. Knowles M, Gatzy J, Boucher R. Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis. N Engl J Med. 1981;305:1489-95. (Pubitemid 12244203)
9. Tsui LC, Buchwald M, Barker D, Braman JC, Knowlton R, Schumm JW, et al. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science. 1985;230:1054-7. (Pubitemid 16192696)
10. Estivill X, Scambler PJ, Wainwright BJ, Hawley K, Frederick P, Schwartz M, et al. Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics. 1987;1:257-63.
11. Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989;245:1059-65. (Pubitemid 19231813)
12. Sharma N, Acharya N, Singh SK, Singh M, Sharma U, Prasad R. Hetrogenous spectrum of CFTR gene mutation in Indian patients with congenital absence of vas deferens. Hum Reprod. 2009;1:1-8.
13. Spencer DA, Venkataraman M, Higgins S, Stevenson K, Weller PH. Cystic fibrosis in children from ethnic minorities in the West Midlands. Respir Med. 1994;88:671-5. (Pubitemid 24341307)
14. Kabra M, Ghosh M, Kabra SK, Khanna A, Verma IC. Delta F508 molecular mutation in Indian children with cystic fibrosis. Indian J Med Res. 1996;104:355-8.
15. Kapoor V, Shastri SS, Kabra M, Kabra SS, Ramachandran V, Arora S, et al. Carrier frequency of F508del mutation of cystic fibrosis in Indian population. J Cyst Fibros. 2005;23:1631-52.
16. Dequeker E, Cuppens H, Dodge J, Estivill X, Goossens M, Pignatti PR, et al. Recommendations for quality improvement in genetic testing for cystic fibrosis. European concerted action on cystic fibrosis. Eur J Hum Genet. 2000;8:S2-24.
17. Holsclaw DS, Perlmutter AD, Jockin H, Shwachman H. Genital abnormalities in male patients with cystic fibrosis. J Urol. 1971;106:568-74.
18. n5T allele in men with congenital bilateral absence of vas deferens. Eur J Hum Genet. 1995;3:285-93.
19. Dork T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Bohm I, Mayerova A, et al. Distinct spectrum of CFTR mutations in congenital absence of vas deferens. Hum Genet. 1997;100:365-77. (Pubitemid 27386842)
20. Casals T, Nunes V, Palacios A, Gimenez J, Gaona A, Ibanez N, et al. Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean coastal area. Hum Genet. 1993;91:66-70. (Pubitemid 23098531)
21. Grangeia A, Sá R, Carvalho F, Martin J, Girodon E, Silva J, et al. Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. Genet Med. 2007;9:163-72. (Pubitemid 46597713)
22. Chillon M, Palacio A, Nunes V, Casals T, Gimenez J, Estivill X. Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients. Hum Mutat. 1992;1:75-6.
23. Casals T, Bassas L, Ruiz-Romero J, Chillón M, Giménez J, Ramos MD, et al. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Hum Genet. 1995;95:205-11.
24. Augarten A, Yahav Y, Keremn BS, Halle D, Laufer J, Szeinberg A, et al. Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Lancet. 1994;344:1473-4. (Pubitemid 24351704)
25. Sharma N, Singh M, Kaur G, Thapa BR, Prasad R. Identification and characterization of CFTR gene mutation in Indian CF patients. Ann Hum Genet. 2009;76:26-33.
26. Shastri SS, Kabra SS. Mutation spectrum in India. In: Respicon 2006. Pre conference workshop on cysic fibrosis and fourth CF conference of India. Organised by Cystic Fibrosis Working Group, Respiratory Chapter, Indian Academy of Pediatrics, Nov 23, 2006.
27. Sharma N, Singh M, Acharya N, Singh SK, Thapa BR, Kaur G, Prasad R. Implication of cystic fibrosis transmembrane conductance regulator gene in infertile family members of Indian CF patients. Biochem Genet. 2008;46:847-56.
28. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066-73. (Pubitemid 19231814)
29. Hyde SC, Emsley P, Hartshorn MJ, Mimmack MM, Gileadi U, Pearce SR, et al. Structural model of ATP-binding protein associated with cystic fibrosis, multidrug resistance and bacterial transport. Nature. 1990;346:362-5.
30. Short DB, Trotter KW, Reczek D, Kreda SM, Bretscher A, Boucher RC, et al. An apical PDZ protein anchors the cystic fibrosis transmembrane conductance regulator to the cytoskeleton. J Biol Chem. 1998;273:19797-801. (Pubitemid 28367041)
31. Morral N, Bertanpetit J, Estivill X, Nunes V, Casals T, Gimenez J, et al. The origin of the major cystic fibrosis mutation (delta F508) in European populations. Nat Genet. 1994;7:169-75. (Pubitemid 24174656)
32. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073-80. (Pubitemid 19231815)
33. Estivill X, Bancells C, Ramos C, Biomed CF. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum Mutat. 1997;10:135-54. (Pubitemid 27327488)
34. Yamashiro Y, Shimizu T, Oguchi S, Shioya T, Nagata S, Ohtsura Y, et al. The estimated incidence of cystic fibrosis in Japan. J Pediatr Gastroenterol Nutr. 1997;24:544-54.
35. Schwarz MJ, Super M, Wallis C, Beighton P, Newton C, Heptinstall LE, et al. Delta 508 testing of the DNA bank of the royal Manchester Children's Hospital. Hum Genet. 1990;85:428-30. (Pubitemid 20341135)
36. Kabra M, Kabra SK, Ghosh M, Khanna A, Arora S, Menon PS, et al. Is the spectrum of mutations in Indian patients with cystic fibrosis different? Am J Med Genet. 2000;93:161-3. (Pubitemid 30408755)
37. Kabra SK, Kabra M, Lodha R, Shastri S, Ghosh M, Pandey RM, et al. Clinical profile and frequency of delta F508 mutation in Indian children with cystic fibrosis. Indian Pediatr. 2003;40:612-9. (Pubitemid 36898761)
38. Bowlers IM, Estelin EJ, Littlewood JM. Cystic fibrosis in Asians. Arch Dis Child. 1993;68:120-2. (Pubitemid 23039311)
39. Curtis A, Richardson RJ, Boohene J, Jackson A, Nelson R, Bhattacharya SS. Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family. J Med Genet. 1993;30:164-6. (Pubitemid 23078398)
40. Bhutta ZA, Moattar T, Shah U. Genetic analysis of cystic fibrosis in Pakistan: a preliminary report. J Pakistan Med Assoc. 2000;50:217-9.
41. Mei-Zahav M, Durie P, Zielenski J, Solomon M, Tullis E, Tsui LC, et al. The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants. Arch Dis Child. 2005;90:675-9. (Pubitemid 40922495)
42. Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004;6:387-91. (Pubitemid 39310514)
43. Kaplan E, Swachman H, Permutter AD, Rule A, Khaw KT, Holsclaw DS. Reproductive failure in males with cystic fibrosis. N Engl J Med. 1968;279:65-9.
44. Jequier AM, Ansell ID, Bullimore NJ. Congenital absence of the vas deferens presenting with infertility. J Androl. 1985;6:15-9.
45. Oates RD, Amos JA. Congenital bilateral absence of vas deferens and cystic fibrosis: a genetic commonality. World J Urol. 1993;11:82-8. (Pubitemid 23273282)
46. Landing BH, Wells TR, Wang CI. Abnormality of the epididymis and vas deferens in cystic fibrosis. Arch Pathol. 1969;88:569-80.