| References |
|
|
ACOG committee opinion
(2005)
Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
Obstetrics and Gynecology
106:
893894.
|
|
|
Delvin E,
Pottier A,
Scriver CR and
Gold RJM
(1974)
The application of an automated hexosaminidase assay to genetic screening.
Clinica Chimica Acta
53:
135142.
|
|
|
Fernandes MJG,
Kaplan F,
Clow CL,
Hechtman P and
Scriver CR
(1992)
Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of TaySachs disease gene carriers among Ashkenazi Jews.
Genetic Epidemiology
9:
169175.
|
|
|
Frumkin A and
Zlotogora J
(2008)
Genetic screening for reproductive purposes at school: Is it a good strategy?
American Journal of Medical Genetics Part A
146A:
264269.
|
|
|
Gason AA,
Metcalfe SA,
Delatycki MB et al.
(2005)
Tay Sachs disease carrier screening in schools: Educational alternatives and cheekbrush sampling.
Genetics in Medicine
7:
626632.
|
|
|
Gold RJM,
Maag UR,
Neal JL and
Scriver CR
(1974)
The use of biochemical data in screening for mutant alleles and in genetic counselling.
Annals of Human Genetics
37:
315326.
|
|
|
Gross SJ,
Pletcher BA and
Monaghan KG
(2008)
Carrier screening in individuals of Ashkenazi Jewish descent.
Genetics in Medicine
10:
5456.
|
|
|
Hechtman P,
Kaplan F,
Bayleran J et al.
(1990)
More than one mutant allele causes infantile TaySachs disease in French Canadians.
American Journal of Human Genetics
47:
815822.
|
|
|
Kaplan F,
Kokotsis G,
Capua A and
Scriver CR
(1991)
Quantification of -thalassemia in Quebec immigrants of Mediterranean Southeast Asian and Asian Indian origin.
Clinical and Investigative Medicine
14:
325330.
|
|
|
Kaplan F,
Kokotsis G,
DeBraekeleer M,
Morgan K and
Scriver CR
(1990)
-Thalassemia genes in French Canadians: haplotype and mutation analysis of Portneuf chromosomes.
American Journal of Human Genetics
46:
126132.
|
|
|
Langlois S,
Ford J and
Chitayat D
(2008)
Joint SOGC-CCMG Clinical Practice Guideline. Carrier screening for Thalassemia and hemoglobinopathies in Canada.
Journal of Obstetrics and Gynaecology of Canada
218:
950959.
|
|
|
Langlois S and
Wilson RD
(2006)
Joint SOGC-CCMG Clinical Practice Guideline. Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent.
Journal of Obstetrics and Gynaecology of Canada
177:
324332.
|
|
|
Mitchell JJ,
Capua A,
Clow C and
Scriver CR
(1996)
Twenty-year outcome analysis of genetic screening programs for TaySachs and -thalassemia disease carriers in high schools.
American Journal of Human Genetics
59:
793798.
|
|
|
Mitchell JJ,
Scriver CR,
Clow CL and
Kaplan F
(1993)
What young people think and do when the option for cystic fibrosis carrier testing is available.
Journal of Medical Genetics
30:
538542.
|
|
|
Ross LF
(2006)
Heterozygote carrier testing in high schools abroad: what are the lessons for the US?
Journal of Law, Medicine and Ethics
34:
753764.
|
|
|
book
Scriver CR
(1995)
"Book review of".
In: Andrews LB,
Fullarton JE,
Holtzman NA and
Motulsky AG (eds)
Assessing Genetic Risks: Implications for Health and Social Policy.
Washington, DC: National Academy Press.
American Journal of Human Genetics 56: 814816.
|
|
|
Scriver CR
(2001)
Human genetics: lessons from Quebec population(s).
Annual Review of Genomics and Human Genetics
2:
69101.
|
|
|
Scriver CR,
Laberge C,
Clow CL and
Fraser FC
(1978)
Genetics and medicine: an evolving relationship.
Science
200:
946952.
|
|
|
ePath
Statistics Canada
(2006) Ethnic origins, 2006 counts, for census metropolitan areas and census agglomerations: Montreal (table). Canadian Statistics. Last updated 2 April 2008. http://www12.statcan.gc.ca/english/census06/data/highlights/ethnic/pages/Page.cfm?Lang=E&Geo=CMA&Code=462__Data=Count&Table=2&StartRec=1&Sort=3&Display=All&CSDFilter=5000. Accessed on 11 February 2009.
|
|
|
Strom CM,
Crosley B,
Redman JB et al.
(2004)
Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100 000 tests performed in a commercial laboratory.
Genetic in Medicine
6:
145152.
|
|
|
Zannis-Hadjopoulos M,
Gold RJM,
Maag UR,
Metrakos JD and
Scriver CR
(1977)
Improved detection of -thalassemia carriers by a two-test method.
Human Genetics
38:
315324.
|
| Further Reading |
|
|
book
Committee for the Study of Inborn Errors of Metabolism, Division of Medical Sciences; Assembly of Life Sciences
(1975)
Genetic Screening. Programs, Principles, and Research.
Washington DC: National Academy of Sciences.
|
|
|
Evans RG
(1988)
We'll take care of it for you: health care in the Canadian community.
Daedalus
117(4):
155189.
|
|
|
Gason AA,
Delatycki MB,
Metalfe SA and
Aitken M
(2006)
It's back to school for genetic screening.
European Journal of Human Genetics
14:
384389.
|
|
|
book
Scriver CR,
Beaudet AL,
Sly WS and
Valle D (eds)
(2001)
The Metabolic and Molecular Bases of Inherited Diseases,
8th edn. [Detailed descriptions of TaySachs disease and the thalassemias.]
New York: McGraw-Hill.
|
| Web Links |
|
|
ePath
-Hemoglobin (HBB); LocusID: 3043. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3043
|
|
|
ePath
-Hemoglobin (HBB); MIM number: 141900. OMIM: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=141900
|
|
|
ePath
Hexosaminidase A (HEXA); LocusID: 3073. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3073
|
|
|
ePath
Hexosaminidase A (HEXA); MIM number: 272800. OMIM: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606869
|