Abstract
Objective: To map the gene responsible for nonsyndromic hearing impairment in a consanguineous family. Methods: Firstly, X chromosome scanning was used to exclude X chromosome. Secondly, candidate gene analyzing and genome scanning were performed by homozygosity mapping. Then, additional markers flanking the tightly linked marker were tested to confirm linkage and decide the candidate region. Results: The nonsyndromic hearing impairment of this family was autosomal recessive. Twenty-five known genes were excluded. Autosomal genome scanning indicated that D17S1293 was tightly linked with disease gene. And further study mapped the disease gene to a 5. 07 cM interval bounded by D17S1850 and D17S1818. Conclusion: The disease gene of the family is mapped to a 5. 07 cM interval between D17S1850 and D17S1818, which is a new locus of autosomal recessive nonsyndromic hearing impairment.
| Original language | English |
|---|---|
| Pages (from-to) | 89-93 |
| Number of pages | 5 |
| Journal | Chinese Journal of Medical Genetics |
| Volume | 20 |
| Issue number | 2 |
| State | Published - Apr 2003 |
| Externally published | Yes |
Keywords
- Gene mapping
- Homozygosity mapping
- Nonsyndromic hearing impairment
Fingerprint
Dive into the research topics of 'Gene mapping of a nonsyndromic hearing impairment family'. Together they form a unique fingerprint.Cite this
- APA
- Author
- BIBTEX
- Harvard
- Standard
- RIS
- Vancouver