A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3

Human Genetics

Volumn 118, Issue 5, 2006, Pages 605-610

  Hassan, Muhammad Jawad ^a   Santos, Regie Lyn P ^b   Rafiq, Muhammad Arshad ^c   Chahrour, Maria H ^b   Pham, Thanh L ^b   Wajid, Muhammad ^a   Hijab, Nadine ^b   Wambangco, Michael ^b   Lee, Kwanghyuk ^b   Ansar, Muhammad ^c   Yan, Kai ^b   Ahmad, Wasim ^a   Leal, Suzanne M ^b  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c COMSATS Institute of Information Technology ^*  (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; INHIBITOR OF DIFFERENTIATION 2; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 2P; CHROMOSOME MAP; CLINICAL ARTICLE; CONTROLLED STUDY; GENE FUNCTION; GENE LOCUS; GENE SEQUENCE; GENETIC VARIABILITY; GENOME ANALYSIS; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MICROSATELLITE MARKER; NUCLEOTIDE SEQUENCE; PAKISTAN; PRIORITY JOURNAL; SCORING SYSTEM; SEQUENCE ANALYSIS;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; GENES, RECESSIVE; HEARING LOSS; HUMANS; MALE; PEDIGREE;

EID: 29244462038     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-0079-8     Document Type: Article

References (26)

1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101 11731797
2. Broman K, Murray JC, Scheffield VC, White RL, Weber JL (1998) Comprehensive human genetic maps: Individual and sex specific variation in recombination. Am J Hum Genet 63:861-869 10.1086/302011
3. Calzado MA, Sancho R, Munoz E (2004) Human immunodeficiency virus type 1 Tat increases the expression of cleavage and polyadenylation specificity factor 73-kilodalton subunit modulating cellular and viral expression. J Virol 78:6846-6854 10.1128/JVI.78.13.6846-6854.2004
4. Cottingham R, Indury RM, Schaffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263
5. Freimer NB, Sandkuijl LA, Blower SM (1993) Incorrect specification of marker allele frequencies: Effects on linkage analysis. Am J Hum Genet 52:1102-1110 8503444
6. Grimberg J, Nawoschik S, Bellusico L, McKee R, Turck A, Eisenberg A (1999) A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 17:83-90
7. Gudbjartsson DF, Jonasson K, Frigge ML, Kong A (2002) Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25:12-13 10.1038/75514
8. Holme RH, Bussoli TJ, Steel KP (2002) Table of gene expression in the developing ear. URL: http://www.ihr.mrc.ac.uk/hereditary/genetable/ search.shtml
9. Ilhan A, Tuncer C, Komsuoglu SS, Kali S (1999) Jervell and Lange-Nielsen syndrome: Neurologic and cardiologic evaluation. Pediatr Neurol 21:809-813 10.1016/S0887-8994(99)00100-9
10. International Human Genome Sequence Consortium (2001) Initial sequence and analysis of the human genome. Nature 409:860-921
11. Jen Y, Manova K, Benezra R (1997) Each member of the Id gene family exhibits a unique expression pattern in mouse gastrulation and neurogenesis. Dev Dyn 208:92-106 10.1002/ (SICI)1097-0177(199701)208:1<92::AID-AJA9>3.0.CO;2-X
12. Kong X, Murphy K, Raj T, He C, White PS, Matise TC (2004) A combined linkage-physical map of the human genome. Am J Hum Genet 75:1143-1148 10.1086/426405
13. Kubisch C, Schroeder BC, Friedrich T, Lutjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ (1999) KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 96:437-446 10.1016/S0092-8674(00)80556-5
14. Malaspina A, Kaushik N, de Belleroche J (2000) A 14-3-3 mRNA is up-regulated in amyotrophic lateral sclerosis spinal cord. J Neurochem 75:2511-2520 10.1046/j.1471-4159.2000.0752511.x
15. Morton NE (1991) Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 630:16-31 1952587
16. Petit C (1996) Genes responsible for human hereditary deafness: Symphony of a thousand. Nat Genet 14:385-391 10.1038/ng1296-385
17. O'Connell JR, Weeks DE (1998) PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266 10.1086/301904
18. S Rozen HJ Skaletsky 2000 Primer3 on the WWW for general users and for biologist programmers. In: S. Krawetz, S. Misener (eds) Bioinformatics methods and protocols: Methods in molecular biology Humana NJ pp 365-386
19. Schuler GD (1997) Sequence mapping by electronic PCR. Genome Res 7:541-550 9149949
20. Smith AN, Borthwick KJ, Karet FE (2002) Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis. Gene 297:169-177 10.1016/ S0378-1119(02)00884-3
21. Sobel E, Lange K (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 58:1323-1337 8651310
22. Steel KP, Bussoli TJ (1999) Deafness genes: Expressions of surprise. Trends Genet 15:207-211 10354578
23. Su K, Kyaw H, Fan P, Zeng Z, Shell BK, Carter KC, Li Y (1997) Isolation, characterization, and mapping of two human potassium channels. Biochem Biophys Res Commun 241:675-681 10.1006/bbrc.1997.7830
24. The Hearing Research Group at Brigham & Women's Hospital (2002) Human Cochlear cDNA library and EST database. URL: http://www.hearing.bwh.harvard.edu/estinfo.htm
25. Van Camp G, Smith RJH (2005) Hereditary Hearing Loss Homepage. URL: http://www.webhost.ua.ac.be/hhh/
26. Weeks DE, Sobel E, O'Connell JR, Lange K (1995) Computer programs for multilocus haplotyping of general pedigrees. Am J Hum Genet 56:1506-1507 7762577