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Ashkenazi jewish genomic sequence analysis
Clinical significance:
- high prevalence of autosomal recessive diseases
- Tay-Sachs disease
- Canavan disease
- cystic fibrosis
- familial dysautonomia
- relatively high frequency of alleles that confer a strong risk of common diseases
- Parkinson's disease
- breast cancer
- ovarian cancer
* also see Ashkenazi Jewish person
Genetics:
- mutations in known Askenazi disease genes [2]
- ABCC8
- ACADS
- APC
- ASPA
- BCKDHB
- BLM
- BRCA1
- BRCA2
- CCM2
- CFTR
- CLRN1
- DCXR
- DHDDS
- DLD
- F11
- FAM161A
- FANCC
- FKTN
- GALT
- GBA
- GJB2
- GJB6
- HBA2
- HEXA
- HFE
- HOGA1
- HPS3
- IKBKAP
- LCA5
- LDLR
- LOXHD1
- LRRK2
- MAK
- MCOLN1
- MEFV
- MPL
- MSH2
- MSH6
- MTTP
- NDUFAF5
- NEB
- PCDH15
- PHGDH
- SMPD1
- TMEM216
- TOR1A [2]
* also see ARUP consult [3]
Related
Ashkenazi Jewish person
General
genome sequencing
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: 18197057 PMCID: PMC3110977 Free PMC article.
- 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
PMID: 25203624 Free PMC Article
http://www.nature.com/ncomms/2014/140909/ncomms5835/full/ncomms5835.html
- 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