Carrier testing for autosomal-recessive disorders

Critical Reviews in Clinical Laboratory Sciences
Hilary Vallance, J Ford

Abstract

The aim of carrier testing is to identify carrier couples at risk of having offspring with a serious genetic (autosomal recessive) disorder. Carrier couples are offered genetic consultation where their reproductive options, including prenatal diagnosis, are explained. The Ashkenazi Jewish population is at increased risk for several recessively inherited disorders (Tay-Sachs disease, Cystic fibrosis, Canavan disease, Gaucher disease, Familial Dysautonomia, Niemann-Pick disease, Fanconi anemia, and Bloom syndrome). Unlike Tay-Sachs disease, there is no simple biochemical or enzymatic test to detect carriers for these other disorders. However, with the rapid identification of disease-causing genes in recent years, DNA-based assays are increasingly available for carrier detection. Approximately 5% of the world's population carries a mutation affecting the globin chains of the hemoglobin molecule. Among the most common of these disorders are the thalassemias. The global birth rate of affected infants is at least 2 per 1000 (in unscreened populations), with the greatest incidence in Southeast Asian, Indian, Mediterranean, and Middle Eastern ethnic groups. Carriers are detected by evaluation of red cell indices and morphology, followe...Continue Reading

References

Feb 1, 1992·American Journal of Medical Genetics·E SidranskyE I Ginns
Jun 1, 1991·Current Opinion in Genetics & Development·A CaoR Galanello
Nov 7, 1991·The New England Journal of Medicine·Ernest Beutler
Dec 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·Ernest BeutlerC West
May 1, 1991·Proceedings of the National Academy of Sciences of the United States of America·O LevranE H Schuchman
Feb 1, 1990·The Journal of Clinical Investigation·S P Cai, Y W Kan
Feb 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·B F O'DowdD J Mahuran
Jan 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·V C SheffieldR M Myers
Aug 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·R K SaikiH A Erlich
Apr 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·S TsujiE I Ginns
Feb 1, 1988·American Journal of Medical Genetics·R MatalonJ Casanova
May 1, 1986·The Journal of Pediatrics·M A BeaudryY W Kan
May 1, 1986·The Journal of Pediatrics·D W BianchiL Wolfe
Sep 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·R Myerowitz, R L Proia
Jan 1, 1983·In Vitro·C H UittenbogaartJ L Fahey
Jan 1, 1993·Journal of Inherited Metabolic Disease·R I Kelley
Nov 1, 1995·Journal of Clinical Pathology·M RogersB Bain
Feb 1, 1996·Journal of Pediatric Hematology/oncology·F E ShaferB Lubin
May 1, 1996·Nature Medicine·Ernest Beutler
Jun 1, 1996·Pediatric Clinics of North America·B E Glader, K A Look
Mar 1, 1996·American Journal of Medical Genetics·K W DumarsF E Shafer
Jan 1, 1996·Genetic Epidemiology·F LoreyG C Cunningham
Jun 7, 1997·BMJ : British Medical Journal·D J Weatherall
Oct 23, 1997·JAMA : the Journal of the American Medical Association·A CaoM C Rosatelli
Jul 23, 1998·British Journal of Haematology
Aug 15, 1998·Annals of the New York Academy of Sciences·A Capua
Mar 26, 1999·American Journal of Human Genetics·A BlumenfeldJ F Gusella
Jul 8, 1999·The New England Journal of Medicine·N F Olivieri
Jun 29, 2000·Baillière's Clinical Haematology·J FlintJ B Clegg
Jun 29, 2000·Baillière's Clinical Haematology·L F Bernini, C L Harteveld
Jun 29, 2000·Baillière's Clinical Haematology·S L Thein
Jun 29, 2000·Baillière's Clinical Haematology·A CaoM C Rosatelli
Dec 29, 2000·Journal of Pediatric Hematology/oncology·F Lorey
Feb 17, 2001·American Journal of Human Genetics·S L AndersonB Y Rubin
Apr 3, 2001·The Journal of Laboratory and Clinical Medicine·D C TangG P Rodgers
Aug 2, 2001·Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology·R J Gibbons
Mar 8, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Glenn E PalomakiStacey C FitzSimmons

Citations

Jun 24, 2010·European Journal of Human Genetics : EJHG·Nicole E CousensMartin B Delatycki
Apr 21, 2011·Human Genomics·Mirella Filocamo, Amelia Morrone
Oct 1, 2015·Molecular Genetics and Metabolism·Maria Francisca Coutinho, Sandra Alves
Aug 17, 2005·International Journal of Dermatology·Benjamin BarankinNorman R Wasel
Mar 14, 2013·International Journal of Laboratory Hematology·J Ford
Jun 4, 2014·International Journal of Nursing Practice·Manal Ibrahim Al-KloubErika Sivarajan Froelicher
Mar 31, 2005·Pediatric Neurology·Erasmo B CasellaAron J Diament
May 17, 2014·Primary Care·Kathryn Teng, Louise S Acheson
Dec 17, 2008·American Journal of Obstetrics and Gynecology·Benjamin D SolomonW Gregory Feero
Aug 12, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ashley KuhlJessica Scott Schwoerer
May 13, 2004·Expert Review of Molecular Diagnostics·Bailing ZhangJean Amos
Jan 19, 2018·International Journal of Molecular Sciences·Marta MoskotMagdalena Gabig-Cimińska
Oct 21, 2018·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Yuehong ChenChuan-Ju Liu
Sep 21, 2019·Nature Reviews. Disease Primers·A Malcolm R TaylorGrant S Stewart
Jan 4, 2007·The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics·Lainie Friedman Ross
May 6, 2020·Journal of Advanced Research·Reena DasSubrata Saha

Related Concepts

Bloom Syndrome
Pulmonary Cystic Fibrosis
Dysautonomia, Familial
Fanconi Anemia
Gaucher Disease, Type 3 (Disorder)
Conditions, Recessive Genetic
Genetic Screening Method
Heterozygote Detection
Niemann-Pick Diseases
Hexosaminidase alpha-Subunit Deficiency (Variant B)

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