Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes

Sivakumaran,Theru A.; Lesperance,Marci M.

doi:10.3892/ijmm.14.5.903

November 2004 Volume 14 Issue 5

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November 2004 Volume 14 Issue 5

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Article

Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes

Authors:
- Theru A. Sivakumaran
- Marci M. Lesperance
View Affiliations / Copyright

Affiliations: Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, MI, USA
Pages: 903-907
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Published online on: November 1, 2004

https://doi.org/10.3892/ijmm.14.5.903
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Abstract

In this report, we present the haplotype and linkage disequilibrium (LD) pattern in the Collapsin Response Mediator Protein 1 (CRMP1) and Ellis-van Creveld syndrome (EVC) gene region. We genotyped eight different single nucleotide polymorphisms (SNPs) in the CRMP1 and EVC genes in 90 control individuals of diverse ethnicity. The minor allele frequencies ranged from 3.3-49.4%, with most having a frequency >25%. A total of 37 haplotypes were derived from these eight polymorphisms, with only one haplotype having a frequency >10%. Pairwise LD analysis showed a weak but significant LD between markers located about 243 kb apart in this region. The LD was significant between markers spaced about 208 kb apart in EVC, whereas no LD was found between a pair of markers located about 5 kb apart in CRMP1. However, in general, LD correlated with the distance between loci. The CRMP1 and EVC genes are located near WFS1, the Wolfram syndrome type 1 gene, in which mutations also cause low frequency sensorineural hearing loss (LFSNHL). The haplotypes obtained from these polymorphisms will be useful to track the segregation of phenotypes in families with Ellis-van Creveld syndrome, Weyers acrodental dysostosis, LFSNHL and Wolfram syndrome type 1.

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes

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Abstract

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