Abstract | PURPOSE: METHODS: A genetic screening and counseling program in a high-risk community. RESULTS: The 1425 residents who attended group genetic counseling sessions between 2003 and 2007 consented to genetic testing. We identified 217 carriers for either one or two disease causing mutations. High carrier frequencies for cerebrotendinous xanthomatosis, prolidase deficiency, argininosuccinate lyase deficiency, and carbamyl phosphate synthetase I deficiency were identified as 1:11, 1:21, 1:41, and 1:95, respectively. Fifty-eight percent (125) of the carriers' spouses agreed to genetic counseling and testing. Ten couples at risk for affected offspring were identified and offered prenatal genetic counseling and diagnosis. CONCLUSIONS: The genetic screening program, the first of its kind reported in a Druze community, was well received. We expect this program to increase awareness of genetic counseling, to contribute to disease prevention, and to serve as a model for other isolated communities.
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Authors | Tzipora C Falik-Zaccai, Nechama Kfir, Pnina Frenkel, Cindy Cohen, Mary Tanus, Hanna Mandel, Shihab Shihab, Siman Morkos, Salameh Aaref, Marshall L Summar, Morad Khayat |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics
(Genet Med)
Vol. 10
Issue 12
Pg. 903-9
(Dec 2008)
ISSN: 1530-0366 [Electronic] United States |
PMID | 19092443
(Publication Type: Journal Article)
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Chemical References |
- Dipeptidases
- proline dipeptidase
- Argininosuccinate Lyase
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Topics |
- Argininosuccinate Lyase
(genetics)
- Argininosuccinic Aciduria
- Carbamoyl-Phosphate Synthase I Deficiency Disease
(diagnosis, genetics, prevention & control)
- Consanguinity
- Dipeptidases
(deficiency, genetics)
- Female
- Genetic Counseling
- Genetic Testing
- Humans
- Middle East
(ethnology)
- Population Groups
(ethnology, genetics)
- Xanthomatosis, Cerebrotendinous
(diagnosis, genetics, prevention & control)
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