High carrier frequency of the 35delG deafness mutation in European populations

European Journal of Human Genetics

Volumn 8, Issue 1, 2000, Pages 19-23

  Gasparini, Paolo ^a   Rabionet, Raquel ^b   Barbujani, Guido ^f   Melchionda, Salvatore ^a   Petersen, Michael ^e   Brøndum Nielsen, Karen ^c   Metspalu, Andres ^f   Oitmaa, Eneli ^f   Pisano, Marina ^d   Fortina, Paolo ^f   Zelante, Leopoldo ^a   Estivill, Xavier ^b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b Deafness Research Group   (Spain)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

^d CNR   (Italy)

^e Children's Hospital   (Greece)

^f NONE

Author keywords

35delG; Carrier frequency; Genetic deafness; GJB2

Indexed keywords

CONNEXIN 26;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL DEAFNESS; EUROPE; FOUNDER EFFECT; GENE DELETION; GENE FREQUENCY; HETEROZYGOTE; HUMAN; HUMAN CELL; JEW; MAJOR CLINICAL STUDY; MIDDLE EAST; PERCEPTION DEAFNESS; POPULATION GENETICS; PRIORITY JOURNAL;

CONNEXINS; DEAFNESS; DNA; DNA MUTATIONAL ANALYSIS; EUROPE; FEMALE; GENETIC SCREENING; HETEROZYGOTE; HUMANS; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 17544402026     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200406     Document Type: Article

References (26)

1. Morton NE: Genetic epidemiology of hearing impairment. Ann NY Acad Sci 1991; 630: 16-31.
2. van Camp G, Willems PJ, Smith RJH: Nonsyndromic hearing impairment: Unparalleled heterogeneity. Am J Hum Genet 1997; 60: 758-764.
3. Guilford P, Ben Arab S, Blanchard S et al: A non-syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet 1994; 6: 24-28.
4. Brown KA, Janjua AH, Karbani G et al: Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. Hum Mol Genet 1996; 5: 169-175.
5. Gasparini P, Estivill X, Volpini V et al: Linkage of DFNB1 to non-syndromic neurosensory autosomal recessive deafness in Mediterranean families. Eur J Hum Genet 1997; 5: 83-88.
6. Kelsell DP, Dunlop J, Stevens HP et al: Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997; 387: 80-83.
7. Zelante L, Gasparini P, Estivill X et al: Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 9: 1605-1609.
8. Estivill X, Fortina P, Surrey S et al: Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998; 351: 394-398.
9. Denoyelle F, Weil D, Maw MA et al: Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997; 6: 2173-2177.
10. Kelley PM, Harris DJ, Comer BC et al: Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998; 62: 792-799.
11. Scott DA, Kraft ML, Carmi R et al: Identification of mutations in the connexin 26 gene that cause autosomal recessive non-syndromic hearing loss. Hum Mutat 1998; 11: 387-394.
12. Lench X, Houseman M, Newton V, Van Camp G, Mueller R: Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 1998; 351: 415.
13. Petit C: Genes responsible for human hereditary deafness: symphony of a thousand. Nat Genet 1996; 14: 385-391.
14. Rabionet R, Estivill X: Allele specific oligonucleotide analysis (ASO) for the common mutation 35delG in the connexin 26 (GJB2) gene. J Mol Genet 1999; 36: 260-261.
15. Antoniadi T et al: High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. Clin Genet 1999; 55: 381-382.
16. Excoffier L, Smouse PE, Quattro J: Analysis of molecular variance inferred from metric distances among haplotypes: Application to human mitochondrial DNA restriction data. Genetics 1992; 131: 479-491.
17. Morral N, Bertranpetit J, Estivill X et al: The origin of the major cystic fibrosis mutation (ΔF508) in European populations. Nat Genet 1994; 7: 169-175.
18. Sokal RR, Oden NL: Spatial autocorrelation in biology. 1. Methodology. Biol J Linn Soc 1978; 10: 199-228.
19. Barbujani G, Magagni A, Minch E, Cavalli-Sforza L: An apportionment of human DNA diversity. Proc Natl Acad Sci USA 1997; 94: 4516-4519.
20. De La Chapelle A: Disease gene mapping in isolated human populations: The example of Finland. J Med Genet 1993; 30: 857-865.
21. Laan M, Pääbo S: Demographic history and linkage disequilibrium in human populations. Nat Genet 1997; 17: 435-438.
22. Ichimiya I, Adams JC, Kimura RS: Changes in immunostaining of cochleas with experimentally induced endolymphatic hydrops. Ann Otol Rhinol Laryngol 1994; 103: 457-468.
23. Kikuchi T, Kimura RS, Paul DL, Adams J: Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat Embryol 1995; 191: 101-118.
24. Livshits G, Sokal RR, Kobyliansky E: Genetic affinities of Jewish populations. Am J Hum Genet 1991; 49: 131-146.
25. Sokal RR, Oden NL, Rosenberg MS, DiGiovanni D: Ethnohistory, genetics, and cancer mortality in Europeans. Proc Natl Acad Sci USA 1997; 94: 12728-12731.
26. Morell RJ et al: Mutations in the connexin 26 gene among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998; 19: 1545-1547.