Abstract | PURPOSE: Israeli investigators have identified several relatively frequent disorders due to founder point mutations in Persian (Iranian) Jews, who, for nearly three centuries up to the Islamic Revolution of 1979, were completely isolated reproductively. METHODS: RESULTS: CONCLUSIONS: A carefully planned effort can be delivered to an "increased risk" community if detailed attention is given to planning and organization. However, availability of an effective intervention for those found to be "at-risk" or possibly affected, is essential before embarking.
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Authors | Michael Kaback, Jean Lopatequi, Amin Riley Portuges, Cathy Quindipan, Mitchel Pariani, Nilou Salimpour-Davidov, David L Rimoin |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics
(Genet Med)
Vol. 12
Issue 10
Pg. 628-33
(Oct 2010)
ISSN: 1530-0366 [Electronic] United States |
PMID | 20733503
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Butyrylcholinesterase
- Cholinesterases
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Topics |
- Apnea
- Butyrylcholinesterase
(deficiency)
- Cholinesterases
(deficiency, genetics)
- Consanguinity
- Drug Hypersensitivity
(diagnosis, genetics, prevention & control)
- Ethnicity
(genetics)
- Gene Frequency
- Genetic Carrier Screening
- Genetic Counseling
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Hypoaldosteronism
(diagnosis, genetics, prevention & control)
- Iran
(ethnology)
- Jews
(ethnology, genetics)
- Los Angeles
- Metabolism, Inborn Errors
- Mutation
- Myositis, Inclusion Body
(congenital, diagnosis, genetics, prevention & control)
- Point Mutation
- Polyendocrinopathies, Autoimmune
(diagnosis, genetics, prevention & control)
- Prenatal Diagnosis
- Risk Assessment
- United States
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