Related Experiment Video
Updated: Jul 19, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3
Shahid Y Khan1, Saima Riazuddin, Muhammad Tariq
1National Center of Excellence in Molecular Biology, University of Punjab, 87-West Canal Bank Road, Thokar Niaz Baig, Lahore, Pakistan.
Abstract:
A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss. A maximum two-point lod score of 6.98 at theta = 0 was obtained for marker D11S1337 (68.55 cM). Genotyping of 550 families revealed three additional families (PKDF295, PKDF702 and PKDF817) segregating hearing loss linked to chromosome 11q13.2-q13.3. Meiotic recombination events in these four families define a critical interval of 4.81 cM bounded by markers D11S4113 (68.01 cM) and D11S4162 (72.82 cM), and SHANK2, FGF-3, TPCN2 and CTTN are among the candidate genes in this interval. Positional identification of this deafness gene should reveal a protein necessary for normal development and/or function of the auditory system.
More Related Videos
Related Concept Videos
Pleiotropy
Genetic Lingo
Sex-linked Disorders
Incomplete Dominance
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Pedigree Analysis

