Article
Diagnostic approaches to apparent homozygosity.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2012
Landsverk Megan L, Douglas Ganka V, Tang Sha, Zhang Victor W, Wang Guo-Li, Wang Jing, Wong Lee-Jun C
Abstract excerpt
PURPOSE: Sanger sequencing is a mainstay for the identification of gene mutations used in molecular diagnostic laboratories. However, in autosomal recessive disorders, failure of allele amplification can occur for a variety of reasons, leading heterozygous mutations to appear homozygous. We sought to investigate the frequency at which apparently homozygous mutations detected by Sanger sequencing in our laboratory...
Topics
- Algorithms
- Alleles
- Comparative Genomic Hybridization
- DNA Copy Number Variations
- Genetic Carrier Screening
- Homozygote
- Humans
- Polymorphism, Single Nucleotide
- Research Design
- Sequence Analysis, DNA
- Uniparental Disomy