Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease

Reproductive BioMedicine Online

Volumn 15, Issue 1, 2007, Pages 83-88

  Altarescu, Gheona ^a   Brooks, Barry ^a   Margalioth, Ehud ^a   Geva, Talia Eldar ^a   Levy Lahad, Ephrat ^a   Renbaum, Paul ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

Blastomere; Gaucher disease; PGD; Single cell multiplex PCR; Tay Sachs disease

Indexed keywords

ALLELE; ARTICLE; BLASTOMERE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; EMBRYO; GAUCHER DISEASE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; HUMAN TISSUE; MICROSATELLITE MARKER; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; RELIABILITY; TAY SACHS DISEASE;

EID: 34547440291     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1472-6483(10)60696-7     Document Type: Article

References (27)

1. Altarescu G, Eldar-Geva T, Brooks B et al. 2006 Polar body versus blastomere biopsy for PGD. PB or not PB? The American Society of Human Genetics 56th Annual Meeting, 28
2. Azuri J, Elstein D, Lahad A et al. 1998 Asymptomatic Gaucher disease implications for large-scale screening. Genetic Testing 2, 297-299.
3. Beutler E, Nguyen NJ, Henneberger MW et al. 1993 Gaucher disease: gene frequencies in the Ashkenazi Jewish population. American Journal of Human Genetics 52, 85-88.
4. Brady RO, Barranger JA, Furbish FS et al. 1982 Prospects for enzyme replacement therapy in Gaucher disease. Progress in Clinical Biological Research 95, 669-680.
5. Cox TM, Schofield JP 1997 Gaucher disease: clinical features and natural history. Bailliere's Clinical Hematology 10, 657-691.
6. Ginns EI, Erickson A, Tegelaers FP et al. 1983 Isozymes of beta-glucosidase:
7. determination of Gaucher's disease phenotypes. Isozymes Current Topics in Biology and Medical Research 11, 83-93.
8. Gravel RA, Clarke JTR, Kaback MM et al. 1995 The Gm2 gangliosidoses. In: Scriver C, Beaudet A, Valle D et al (eds) The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp. 2839-2879.
9. Handyside AH, Kontogianni EH, Hardy K et al. 1990 Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344, 768-770.
10. Horowitz M, Pasmanik-Chor M, Borochowitz Z et al. 1998 Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Human Mutation 12, 240-244.
11. Karolchik D, Baertsch R, Diekhans M et al. 2003 The UCSC Genome Browser Database. Nucleic Acids Research 31, 51-54.
12. Langlois S, Wilson RD 2006 Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent. Journal of Obstetrics and Gynaecology Canada 28, 324-343.
13. Le Coutre P, Demina A, Beutler E et al. 1997 Molecular analysis of Gaucher disease: distribution of eight mutations and the complete gene deletion in 27 patients from Germany. Human Genetics 99, 816-821.
14. Miller SA, Dykes DD, Polesky HF 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Research 16, 1215
15. Rechitsky S, Strom C, Verlinsky O et al. 1999 Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes. Journal of Assisted Reproductive Genetics 16, 192-198.
16. Rechitsky S, Strom C, Verlinsky O et al. 1998 Allele dropout in polar bodies and blastomeres. Journal of Assisted Reproductive Genetics 15, 253-257.
17. Rechitsky S, Freidine M, Verlinsky Y et al. 1996 Allele dropout in sequential PCR and FISH analysis of single cells (cell recycling). Journal of Assisted Reproductive Genetics 13, 115-124.
18. Strom CM, Levin R, Strom S et al. 2000 Neonatal outcome of preimplantation genetic diagnosis by polar body removal: the first 109 infants. Pediatrics 106, 650-653.
19. Thornhill AR, McGrath JA, Eady RA et al. 2001 A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Prenatal Diagnosis 21, 490-497.
20. Triggs-Raine BL, Feigenbaum AS, Natowicz M et al. 1990 Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. New England Journal of Medicine 323, 6-12.
21. Tsuji S, Martin BM, Barranger JA et al. 1988 Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proceedings of the National Academy of Sciences of the USA 85, 2349-2352.
22. Verlinsky Y, Kuliev A 2005 Micromanipulation and biopsy of polar bodies and blastomeres. In: An Atlas of Preimplantation Genetic Diagnosis 2nd edition. Taylor and Francis, pp. 15-22.
23. Verlinsky Y, Kuliev A 2000 An Atlas of Preimplantation Genetic Diagnosis. Taylor and Francis, pp. 233-234.
24. Verlinsky Y, Ginsberg N, Lifchez A et al. 1990 Analysis of the first polar body: preconception genetic diagnosis. Human Reproduction 5, 826-829.
25. Wells D 2004 Advances in preimplantation genetic diagnosis. European Journal of Obstetrics and Gynecologic Reproductive Biology 115 (Suppl. 1), S97-S101.
26. Zimran A, Gelbart T, Westwood B et al. 1991 High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. American Journal of Human Genetics 49, 855-859.
27. Zlotogora J 2007 Ministry of Health - forum of community genetics. http://www.health.gov.il/pages/default.asp?maincat=42&catId= 146&Pageld=1136 [accessed 18 May 2007].