Research Article
Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association
Table 1
GJB2 variants identified in this study. Novel variants are in italic. BP: basal promoter; Ex 1: exon 1; DSS: donor splice site; Ex 2: exon 2; CR: coding region; 3′UTR: 3′ untranslated region.
| | Variant | Location | Patients () | Controls () | | Heterozygote | Homozygote | Heterozygote | Homozygote |
| | c.-731C>T | 5′ of the BP | 0 | 0 | 1 | 0 | | c.-684_-675del | 5′ of the BP | 2 | 1 | 6 | 1 | | c.-216T>G | BP | 1 | 0 | 0 | 0 | | c.-45C>A | Ex 1 | 1 | 0 | 1 | 0 | | c.-26G>T | Ex 1 | 0 | 0 | 1 | 0 | | c.-23+1G>A | DSS | 1 | 0 | 0 | 0 | | c.670A>C (p.Lys224Gln) | Ex 2 (CR) | 0 | 0 | 1 | 0 | | c.*45G>A | 3′UTR | 0 | 0 | 1 | 0 | | c.*985A>T | 3′UTR | 0 | 0 | 1 | 0 |
|
|
