Ashkenazi jewish genomic sequence analysis
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Genetics
- mutations in known Askenazi disease genes[2]
- LOXHD1
- LRRK2
- MAK
- MCOLN1
- MEFV
- MPL
- MSH2
- MSH6
- MTTP
- NDUFAF5
- NEB
- PCDH15
- PHGDH
- SMPD1
- TMEM216
- TOR1A[2]
Clinical significance
- high prevalence of autosomal recessive diseases
- relatively high frequency of alleles that confer a strong risk of common diseases
* also see Ashkenazi Jewish person
More general terms
Additional terms
References
- ↑ Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008 Jan;10(1):54-6. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18197057 PMCID: PMC3110977 Free PMC article.
- ↑ 2.0 2.1 2.2 Carmi S, Hui KY, Kochav E et al Sequencing an Ashkenazi reference panel supports population- targeted personal genomics and illuminates Jewish and European origins. Nature Communications. 09 September 2014 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/25203624 Free PMC Article <Internet> http://www.nature.com/ncomms/2014/140909/ncomms5835/full/ncomms5835.html
- ↑ 3.0 3.1 ARUP Consult: Laboratory Testing for Developmental Delay, Ashkenazi Jewish Genetic Diseases The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/ashkenazi-jewish-genetic-diseases
Ashkenazi Jewish Genetic Diseases Panel https://arupconsult.com/ati/ashkenazi-jewish-genetic-diseases-panel