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2. Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3

Author

Musharraf Jelani, Paula B. Andrade, Muhammad Ansar, Ghazanfar Ali, Kwanghyuk Lee, Wasim Ahmad, Sulman Basit, Leon Chen, Suzanne M. Leal, and Regie Lyn P. Santos-Cortez

Subjects
Male, rac1 GTP-Binding Protein, Paper, Candidate gene, Genotype, Genome Scan, Locus (genetics), Cell Cycle Proteins, Genes, Recessive, Consanguinity, Biology, Polymorphism, Single Nucleotide, Genetics, otorhinolaryngologic diseases, Ribose-Phosphate Pyrophosphokinase, SNP, Humans, Genetic Predisposition to Disease, Hearing Loss, Promoter Regions, Genetic, Gene, Genetics (clinical), Glycoproteins, Chromosome 7 (human), Haplotype, Calcium-Binding Proteins, Neuropeptides, Chromosome Mapping, Sequence Analysis, DNA, Actins, Pedigree, DNA-Binding Proteins, Haplotypes, Genetic Loci, Trans-Activators, Female, Chromosomes, Human, Pair 7, Transcription Factors
Abstract

A novel locus DFNB90 was mapped to 7p22.1-p15.3 by carrying out a genome scan in a multigenerational consanguineous family from Pakistan with autosomal recessive nonsyndromic hearing impairment (ARNSHI).DFNB90 is the eighth ARNSHI locus mapped to chromosome 7. A multipoint LOD score of 4.0 was obtained at a number of SNP marker loci spanning from rs1468996 (chromosome 7: 5.7 Mb) tors957960 (chromosome 7: 18.8 Mb). The 3-unit support interval and the region of homozygosity for DFNB90 spans from markers rs1553960 (chromosome 7: 4.9 Mb) to rs206198 (chromosome 7: 20.3 Mb). Candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified.

Published
2011

3. Identification of recessive gene heterozygotes by means of paper-partition chromatography

Author

A. A. Buzzati-Traverso

Subjects
Genetics, Paper, Chromatography, Heterozygote, Multidisciplinary, biology, Strain (biology), Mutant, food and beverages, Heterozygote advantage, Genes, Recessive, biology.organism_classification, Phenotype, Molecular biology, Chromosomes, Drosophila melanogaster, Chromatography, Liquid
Abstract

PAPER-PARTITION chromatography of tissues of genetically known strains of Drosophila melanogaster as well as those of certain plants has shown that each strain gives a constant and distinctive pattern. The chromatographic patterns of heterozygotes carrying recessive genes can be easily distinguished from those of either parental homozygous strain, even though the phenotype of the heterozygote is indistinguishable from that of the homozygous dominant. This is the case for: (a) the fluorescent patterns observed under ultra-violet light in the chromatograms of adult Drosophila melanogaster heterozygous for the following mutants: bent, eyeless2, short-vein, spineless-aristapedia, vestigial; (b) the ultra-violet-fluorescent and the ninhydrin-positive patterns of root-tip smears of heterozygotes for the mutant male-sterile2 in tomato1; (c) the ultra-violet-fluorescent and the ninhydrin-positive patterns of root-tip smears and leaf extracts of heterozygotes for the yellow-green mutant of musk melon2 (see also chromatogram).

Published
1953