A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia
Version of Record online: 5 MAY 2009
© 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard
Volume 75, Issue 6, pages 562–567, June 2009
How to Cite
Sırmacı, A., Öztürkmen-Akay, H., Erbek, S., İncesulu, A., Duman, D., Taşır-Yılmaz, S., Özdağ, H. and Tekin, M. (2009), A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia. Clinical Genetics, 75: 562–567. doi: 10.1111/j.1399-0004.2009.01183.x
- Issue online: 1 JUN 2009
- Version of Record online: 5 MAY 2009
- Received 10 October 2008, revised and accepted for publication 26 January 2009
Additional Supporting Information may be found in the online version of this article.
Fig. S1. Schematic representation of parametric multipoint LOD score in family 559. Thex-axis shows marker coverage, genetic position from 3pter (cM).
Fig. S2. Appearance of the SSCP gel for screening of the c.250C>T(p.R84W) mutation. M: ΦX174 DNA/BsuRI marker; lanes 1,2,5,6,9,10,13–15,18–20 are homozygous, lanes 3,4,7,8,11,12,16,17,21 are heterozygous c.250C>T mutation; lanes 22 and 23 are homozygous wild-type samples. Only three single-strand bands are visible, which are indicated with arrows 1–3. Arrows 2 and 3 show mutation-specific and wild-type-specific bands respectively.
Table S1. Used primers and PCR conditions for screening of TMIE mutations.
Table S2. Homozygous SNP genotypes around TMIE in all studied affected members in four families. Different alleles were shown in different colors.
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