Allele frequencies of a SNP and a 27-bp deletion that are the determinant of earwax type in the ABCC11 gene
β Scribed by Takashi Kitano; Isao Yuasa; Kentaro Yamazaki; Nori Nakayashiki; Aya Miyoshi; Kyung Sook Park; Kazuo Umetsu
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 67 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1344-6223
No coin nor oath required. For personal study only.
β¦ Synopsis
Allele frequencies for a SNP (rs17822931) and a 27-bp deletion that are the determinant of earwax type in the ABCC11 gene were investigated in seven Japanese, one Korean, and one German populations. The SNP will be useful as one of ancestry information markers, because it showed marked difference in frequencies between Asian and European populations.
π SIMILAR VOLUMES
We report the first deletion mutation and the first splicing defect in the lysyl hydroxylase gene in a compound heterozygote patient with Ehlers-Danlos syndrome type VI with markedly reduced lysyl hydroxylase activity. Northern analysis of the RNA isolated from skin fibroblasts of the patient demons
We describe a novel type of mutation in the COL2A1 gene in a family with Stickler syndrome, namely a deletion of an entire COL2A1 allele. Until now, almost all COL2A1 mutations found in this syndrome are nucleotide substitutions, small deletions, or insertions, resulting in premature translation ter