A Haplotype Framework for Cystic Fibrosis Mutations in Iran

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A Haplotype Framework for Cystic Fibrosis Mutations in Iran Elahe Elahi, Ahmad Khodadad, Ilya Kupershmidt, Fereshteh Ghasemi, Babak Alinasab, Ramin Naghizadeh, Robert G. Eason, Mahshid Amini, Mehran Esmaili, Mohammad R. Esmaeili Dooki, Mohammad H. Sanati, Ronald W. Davis, Mostafa Ronaghi, Yvonne R. Thorstenson The Journal of Molecular Diagnostics Volume 8, Issue 1, Pages 119-127 (February 2006) DOI: 10.2353/jmoldx.2006.050063 Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Haplotype map of the major haplotypes identified by Varia. The bold horizontal line represents a segment of human chromosome 7 that contains the CFTR gene (bases 116,600,000 to 116,900,000 from GenBank build 34). The vertical lines along the chromosome represent the location of eight polymorphisms used to define core haplotypes in this study, specifically, c.867−33del4 (six or seven repeats of TTGA; rs4148700), c.1001+11 (C/T; rs1800503), c.1525−61 (A/G; rs number not designated), c.1540 (A/G; Met/Val; rs213950), c.3041−92 (G/A; rs number not designated), c.3601−65 (C/A; rs213989), c.4006−200 (G/A; rs214164), and c.4521 (G/A; Q1463Q; rs1800136). The first two polymorphisms coincide on the first vertical line. The horizontal segments connecting the polymorphic sites represent the calculated haplotype blocks. Haplotype blocks are nonoverlapping blocks of consecutive variations representing regions of strong linkage disequilibrium and low recombination rate within the CFTR gene. The corresponding haplotypes are listed below the haplotype blocks. The horizontal and diagonal lines connecting the haplotypes indicate those that co-transmit together. Note that rare haplotypes are not displayed, ie, each block lists only those haplotypes with an estimated frequency of at least 0.02, or if they occur in more than one instance. The Journal of Molecular Diagnostics 2006 8, 119-127DOI: (10.2353/jmoldx.2006.050063) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions