Description:
GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)
DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
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Repository
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Centers for Disease Control and Prevention Repository
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| Class |
Disorders of the Nervous System |
| Quantity |
10ug |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Sample Source
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DNA from LCL
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Race
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Caucasian
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Gene |
GJB2 |
| Chromosomal Location |
13q11-q12 |
| Allelic Variant 1 |
121011.0005; DEAFNESS, AUTOSOMAL RECESSIVE, 1; DFNB1 |
| Identified Mutation |
1-BP DEL, 35G; A mutation consisting of deletion of 1 guanine (G) in a run of 6 guanines extending from position 30 to position 35 in the GJB2 gene has been observed by several groups. Some referred to the deleted nucleotide as 30G (the first of the 6 Gs), whereas others referred to it as 35G. The second mutation found by Carrasquillo et al. [Hum. Molec. Genet. 6: 2163-2172 (1997)] to be responsible for nonsyndromic recessive deafness (220290) in a Muslim-Israeli village in the lower Galilee was a deletion of a guanine residue at cDNA position 35 (35delG), causing a frameshift of the coding sequence leading to premature chain termination at the twelfth amino acid. |
| Remarks |
Donor subject has one allele with a deletion of a guanine residue at cDNA nucletide 35 of the GJB2 gene (35delG) causing a frameshift of the coding sequence leading to premature chain termination at the 12th amino acid; the second allele tested negative for the 35delG mutation |
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