✍ Charlotte Link
📂 Fiction
📅 2018;2015
🏛 Blanvalet-Verlag
🌐 German
⚖ 559 KB
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✦ LIBER ✦
Heterogeneity of X-linked ichthyosis
✍ Scribed by Voß, Martin
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 1 KB
- Volume
- 72
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19971031)72:3<371::aid-ajmg24>3.0.co;2-p
No coin nor oath required. For personal study only.
✦ Synopsis
Robledo et al. [1995]
reported on a Sardinian family with male relatives affected with X-linked ichthyosis with normal STS levels and a normal molecular pattern. The described findings suggested ''the possibility that additional loci of mutational events may be involved in the X-linked ichthyosis phenotype. '' In 1985, I found a distinct scaling in 8 of 29 obligate carriers in 12 families [Voß, 1985]. This I interpreted as ''forme fruste'' of the X-linked ichthyosis in the sense of the Lyon hypothesis. Therefore, I concluded that the gene controlling X-linked ichthyosis is on the inactivated region of the X-chromosome. However, the location on the gene controlling the activity of the STS is situated on the activated part. That is why I suggested at that time that 2 genes are responsible for the abovementioned ichthyosis and the deficiency of STS.
(Ten of the 12 investigated families came from the region of Eichsfeld, a small district in the middle of Germany comprising about 100,000 predominantly Roman Catholic inhabitants surrounded by a Lutheran environment. There are indications in my investigations that this confessional isolate is to a certain degree a genetic isolate too.)
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