Scientific Literature @ DNADirect.com

Scientific Literature

Medical Guidelines and Technical Standards
Bloom Syndrome
Canavan Disease
Cystic Fibrosis
Familial Dysautonomia
Fanconi Anemia
Gaucher Disease
Mucolipidosis IV
Niemann-Pick Disease
Tay-Sachs Disease

Medical Guidelines and Technical Standard

Gross SJ, Pletcher BA, Monaghan, KG for the Professional Practice and Guidelines Committee. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med 2008:10(1):54-56.

Monaghan KG, Feldman GL, Palomaki GE, Spector EB, Ashkenazi Jewish Reproductive Screening Working Group and the Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. Genet Med 2008:10(1):57-72.

Bloom Syndrome

Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urtreger A, Groder J, Legum C. 1998. High frequency of a common Bloom syndrome Askenazi mutation among Jews of Polish origin. Genetic Testing 2:293-296.

Li L, Eng C, Desnick RJ, German J, Ellis NA. 1998. Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. Mol Genet Metab 64:286-290.

Roa BB, Savino CV, Richards CS. 1999. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. Genet Test 3:219-221.

Canavan Disease

American college of medical genetics. Position statement on carrier testing for canavan disease. Bethesda, MD: ACMG, January 10, 1998.

American college of obstetricians and gynecologists. Screening for canavan disease. Technical Bulletin 212.Washington, DC: ACOG. November 1998.

American college of obstetricians and gynecologists. Prenatal and preconceptional carrier screening for genetic diseases in individuals of eastern european jewish descent. Technical Bullentin 298. Washington, DC: ACOG. August, 2004.

Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray PN, StockleyTL. 2004. Canavan disease: Carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. Am J Hum Genet 124A:142-147.

Kaul R, Gao GP, Aloya M, BalamuruganK, Petrosky A, Michals K, Matalon R. 1994. Canavan disease: Mutations among Jewish and non-Jewish patients. Am J Hum Genet 55:34-41.

Matalon R. 1997. Canavan disease: Diagnosis and molecular analysis. Genetic Testing 1:21-25.

Cystic Fibrosis

Preconception and Prenatal Carrier Screening for Cystic Fibrosis. October 2001 Guidelines published by the American College of Obstetricians and Gynecologists & American College of Medical Genetics.

Brown and Schwind. 1999. Journal of Genetic Counseling. Vol. 8, No. 3.

Chillon M, Casals T, Mercier B, et al. Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens. June 1995. Vol. 332, No. 22:1425-80

Clain J, Lehmann-Che J, Edelman A, et al. 2005. Misprocessing of the CFTR protein leads to mild Cystic Fibrosis Phenotype. Hum Mut. Apr: 25(4): 360-71.

Davies JC, Griesenbach U, Alton E. Modifier Genes in Cystic Fibrosis. Pediatric Pulmonol. 2005 May;39(5);383-91

Fitzpatrick SB, Stokes DC, Rosenstein BJ, et al. 1984. Use of Oral Contraceptives in Women with Cystic Fibrosis. Chest. Dec; 86(6): 863-7.

Gan, Veeze, Van den Ouweland, et al. 1995. A Cystic Fibrosis Mutation Associated with Mild Lung Disease. New England Journal of Medicine. July 333(2): 95-99.

Geddes DM, Cystic Fibrosis and Pregnancy. 1992. J R Soc Med. 85 suppl 19: 36-37.

Gene Reviews. CFTR-Related Disorders. www.genetests.org

Handyside A, Lesko J, Tarin J, et al. 1992. Birth of a Normal Girl after In Vitro Fertilization and Preimplantation Diagnosis Testing for Cystic Fibrosis. New England Journal of Medicine. Vol 327, No. 13:905-9

JAMA Patient Page. 2000. JAMA. 284: 1884.

Kerem, E. and Kerem, B. Genotype-Phenotype Correlations in Cystic Fibrosis. Pediatric Pulmonology 1996. 22: 387-395.

Langfelder-Schwind E, Kloza E, Sugarman E, et al. 2005. Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the NSGC. Journal of Genetic Counseling, 14(1): 1-15.

McCarthy and Harris. The CFTR Gene and Regulation of Its Expression. Pediatric Pulmonology. pp1-8, 2005 Wiley-Liss, Inc.

Familial Dysautonomia

Anderson SL, Coli R, Daly IW. et al. Familial dysautonomia is caused by mutations of the IKP gene. Am J Hum Genet. 2001; 68(3):753-758.

Dong J, Edelmann L, Bajwa AM. et al. Familial dysautonomia: Detection of the IKBKAP IVS20(+6T)C and R696P mutations and frequencies among ashkenazi jews. Am J Med Genet. 2002; 110(3):253-257.

Slaugenhaupt SA, Blumenfeld A, Gill SP. et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001;68(3):598-605.

Fanconi Anemia

Auerbach AD. Fanconi anemia: Genetic testing in ashkenazi jews. Genet Test. 1997; 1(1):27-33.

Verlander PC, Kaporis A, Liu Q et al. 1995. Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 86: 4034-4038.

Yamashita T, Wu N, Kupfer G et al. 1996. Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. Blood 87:4424-4432.

Gaucher Disease

Beutler E, Nguyen NJ, Henneberger MW, Smolec JM, McPherson RA, West C, Gelbart T. 1993. Gaucher disease: Gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 52:85-88.

Grabowski G. 1997. Gaucher disease: Gene frequencies and genotype/phenotype correlations. Genetic Testing 1:5-12.

Horowitz M, Pasmanik-Chor M, Borochowitz Z et al. 1998. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Hum Mutat 12:240-244.

Mucolipidosis IV

Sun M, Goldin E, Stahl S. et al. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Gen. 2000; 9(17):2471-2478.

Slaugenhaupt S. The molecular basis of mucolipidosis type IV. Curr Mol Med. 2002; 2(5):445-450.

Edelmann L, Dong J, Desnick RJ, Kornreich R. 2002. Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Am J Hum Genet 70:1023-1027.

Bargal R, Avidan N, Ben-Asher E et al. 2000. Identification of the gene causing mucolipidosis type IV. Nat Genet 26:118-123.

Niemann-Pick Disease

Schuchman E, Miranda SRP. 1997. Niemann-Pick disease: Mutation update, genotype/phenotype correlations, and prospects for genetic testing. Genetic Testing 1:13-19.

Tay-Sachs Disease

Triggs-Raine BL, Feigenbaum AS, Natowicz M. et al. Screening for carriers of tay-sachs disease among ashkenazi jews. A comparison of DNA-based and enzyme-based test. N Engl J Med. 1990; 323(1):6-12.

American College of Obstetricians and Gynecologists. Screening for Tay-Sachs disease. Committee Opinion Number 318. October 2005.
Obstet Gynecol. 2005 Oct;106(4):893-4.

Kaback M, Lim-Steele J, Dabholkar D et al. 1993. Tay-Sachs disease: Carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. JAMA 270:2307-2315.

Kaplan F. 1998. Tay-Sachs disease carrier screening: A model for prevention of genetic disease. Genetic Testing 2:271-292.

Neudorfer O, Pastores GM, Zeng BJ, Gianutsos J, Zaroff CM, Kolodny EH. 2005. Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med 7:119-23

Branda KJ, Tomczak J, Natowicz, MR. 2004. Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy. Genet Test 8:174-180

Akerman BR, Natowicz MR, Kaback MM et al. 1997. Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. Am J Hum Genet 60:1099-1106.

this page last updated: April 17, 2008