PRE-IMPLANTATION GENETIC DIAGNOSIS USING POLAR BODIES
Tomi D1,*, Voigt R1, Eckhold J1, Hinrichs F1, Griesinger G2, Shulze-Mosgau A2, Schöpper B2, Al-Hasani S2, Diedrich K2, Schwinger E1
*Corresponding Author: Dr. Diana Tomi, Institute of Human Genetics, Medical University of Lübeck, RatzeČburger Allee 160, 23538 Lübeck, Germany; Tel.: +49(0)451-500-2621; Fax: +49(0)451-500-4187; E-mail: dianatomi@hotmail.com
page: 17

REFERENCES

1. Verlinsky Y, Ginsberg N, Lifchez A, Valle J, Moise J, Strom CM. Analysis of the first polar body: pre­conception genetic diagnosis. Hum Reprod 1990; 5(7): 826-829.

2. Ludwig M, Pergament D, Schwinger E, Diedrich K. The situation of preimplantation genetic diagnosis in Ger­many: legal and ethical problems. Prenat Diagn 2000; 20(7): 567-570.

3. Schwinger E. Present state and possibilities for the further development of prefertilization and preimplan­­tation genetic diagnosis in Germany. In: Milan M Sr, Bianchi DW, Cuckle H, Eds. Early Prenatal Diagnosis, Fetal Cells and DNA in the Mother. Prague: Charles Uni­versity in Prague, The Karolinum Press, 2002; 228-230.

4. Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, Matsuyama A, Wilson C, Yamane JA, Jacobs PA. A cytogenetic study of 1000 spontaneous abor­tions. Ann Hum Genet 1980; 44(Pt 2): 151-178.

5. Griffin DK, Wilton LJ, Handyside AH, Winston RM, Delhanty JD. Dual fluorescent in situ hybridization for simultaneous detection of X and Y chromosome-spe­cific probes for the sexing of human preimplantation em­bryonic nuclei. Hum Genet 1992; 89(1): 18-22.

6. Munne S, Dailey T, Sultan KM, Grifo J, Cohen J. The use of first polar bodies for preimplantation diagnosis of aneuploidy. Hum Reprod 1995; 10(4): 1014-1020.

7. Verlinsky Y, Rechitsky S, Verlinsky O, Ivachnenko V, Lifchez A, Kaplan B, Moise J, Valle J, Borkowski A, Nefedova J, Goltsman E, Strom C, Kuliev A. Prepreg­nancy testing for single-gene disorders by polar body anal­ysis. Genet Test 1999; 3(2): 185-190.


8. Schopper B, Ludwig M, Edenfeld J, Al-Hasani S, Diedrich K. Possible applications of lasers in assisted re­productive technologies. Hum Reprod 1999; 14(Suppl 1): 186-193.

9. Schaaff F, Wedemann H, Schwinger E. Analysis of sex and DF508 in single amniocytes using primer exten­sion preamplification Hum Genet 1996; 98(2): 158-161.

10. Ray PF, Ao A, Taylor DM, Winston RM, Handy­side AH. Assessment of the reliability of single blastomere analysis for preimplantation diagnosis of the DF508 dele­tion causing cystic fibrosis in clinical practice. Prenat Diagn 1998; 18(13): 1402-1412.

11. Verlinsky Y, Rechitsky S, Cieslak J, Ivakhnenko V, Wolf G, Lifchez A, Kaplan B, Moise J, Walle J, White M, Ginsberg N, Strom C, Kuliev A. Preimplantation diag­nosis of single gene disorders by two-step oocyte genetic analysis using first and second polar body. Biochem Mol Med 1997; 62(2): 182-187.

12. Rechitsky S, Strom C, Verlinsky O, Amet T, Ivakhnenko V, Kukharenko V, Kuliev A, Verlinsky Y. Accuracy of preimplantation diagnosis of single-gene disorders by polar body analysis of oocytes. J Assist Reprod Genet 1999; 16(4): 192-198.

13. Rechitsky S, Strom C, Verlinsky O, Amet T, Ivakhnenko V, Kukharenko V, Kuliev A, Verlinsky Y. Allele dropout in polar bodies and blastomeres. J Assist Reprod Genet 1998; 15(5): 253-257.

14. Dreesen JC, Bras M, Coonen E, Dumoulin JC, Evers JL, Geraedts JP. Allelic dropout caused by allele-specific amplification failure in single-cell PCR of the cystic fibrosis DF508 deletion. J Assist Reprod Genet 1996; 13(2): 112-114.

15. Levinson G, Fields RA, Harton GL, Palmer FT, Maddalena A, Fugger EF, Schulman JD. Reliable gender screening for human preimplantation embryos, using mul­tiple DNA target-sequences. Hum Reprod 1992; 7(9): 1304-1313.

16. Gitlin SA, Lanzendorf SE, Gibbons WE. Polymer­ase chain reaction amplification specificity: incidence of allele dropout using different DNA preparation methods for heterozygous single cells. J Assist Reprod Genet 1996; 13(2): 107-111.

17. Ray PF, Winston RM, Handyside AH. Reduced allele dropout in single-cell analysis for preimplantation genetic diagnosis of cystic fibrosis. J Assist Reprod Genet 1996; 13(2): 104-106.

18. Findlay I, Matthews P, Quirke P. Multiple genetic diagnoses from single cells using multiplex PCR: reliabil­ity and allele dropout. Prenat Diagn 1998; 18(13): 1413-1421.

19. Dreesen JC, Jacobs LJ, Bras M, Herbergs J, Du­moulin JC, Geraedts JP, Evers JL, Smeets HJ. Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis. Mol Hum Reprod 2000; 6(5): 391-396.

20. Moutou C, Gardes N, Viville S. Multiplex PCR combining DF508 mutation and intragenic microsatellites of the CFTR gene for preimplantation genetic diagnosis (PGD) of cystic fibrosis. Eur J Hum Genet 2002; 10(4): 231-238.

21. Strom CM, Ginsberg N, Rechitsky S, Cieslak J, Ivakhenko V, Wolf G, Lifchez A, Moise J, Valle J, Kap­lan B, White M, Barton J, Kuliev A, Verlinsky Y. Three births after preimplantation genetic diagnosis for cystic fibrosis with sequential first and second polar body analy­sis. Am J Obstet Gynecol 1998; 178(6): 1298-1306.

22. Angell RR. Predivision in human oocytes at meio­sis I: a mechanism for trisomy formation in man. Hum Genet 1991; 86(4): 383-387.

23. Kamiguchi Y, Rosenbusch B, Sterzik K, Mikamo K. Chromosomal analysis of unfertilized human oocytes prepared by a gradual fixation-air drying method. Hum Genet 1993; 90(5): 533-541.

24. Marquez C, Cohen J, Munne S. Chromosome identification in human oocytes and polar bodies by spec­tral karyotyping. Cytogenet Cell Genet 1998; 81(3-4): 254-258.

25. Nakaoka Y, Okamoto E, Miharu N, Ohama K. Chromosome analysis in human oocytes remaining unfer­tilized after in-vitro insemination: effect of maternal age and fertilization rate. Hum Reprod 1998; 13(2): 419-424.

26. Bugge M, Collins A, Petersen MB, Fisher J, Brandt C, Hertz JM, Tranebjaerg L, de Lozier-Blanchet C, Nicolaides P, Brondum-Nielsen K, Morton N, Mikkel­sen M. Non-disjunction of chromosome 18. Hum Mol Genet 1998; 7(4): 661-669.

27. Savage AR, Petersen MB, Pettay D, Taft L, All­ran K, Freeman SB, Karadima G, Avramopoulos D, Torfs C, Mikkelsen M, Hassold TJ, Sherman SL. Elucidating the mechanisms of paternal non-disjunction of chromo­some 21 in humans. Hum Mol Genet 1998; 7(8): 1221-1227.

28. Munne S, Dailey T, Sultan KM, Grifo J, Cohen J. The use of first polar bodies for preimplantation diagnosis of aneuploidy. Hum Reprod 1995; 10(4): 1014-1020.

29. Creasy MR, Crolla JA, Alberman ED. A cyto­genetic study of human spontaneous abortions using band­ing techniques. Hum Genet 1976; 31(2): 177-196.

30. Verlinsky Y, Cieslak J, Freidine M, Ivakhnenko V, Wolf G, Kovalinskaya L, White M, Lifchez A, Kaplan B, Moise J. Pregnancies following pre-conception diagno­sis of common aneuploidies by fluorescent in-situ hybrid­ization. Hum Reprod 1995; 10(7): 1923-1927.


31. Verlinsky Y, Cieslak J, Ivakhnenko V, Evsikov S, Wolf G, White M, Lifchez A, Kaplan B, Moise J, Valle J, Ginsberg N, Strom C, Kuliev A. Prevention of age-re­lated aneuploidies by polar body testing of oocytes. J As­sist Reprod Genet 1999; 16(4): 165-169.

32. Montag M, van der Ven K, van der Ven H. Erste klinische Erfahrungen mi der Polkörperdiagnositik in Deutschland. J Fertil Reprod 2002; 12(1): 7-12.

33. Hassold TJ, Pettay D, Freeman SB, Grantham M, Takaesu N. Molecular studies of non-disjunction in tri­somy 16. J Med Genet 1991; 28(3): 159-162.

34. Zaragoza MV, Jacobs PA, James RS, Rogan P, Sherman S, Hassold T. Nondisjunction of human acro­centric chromosomes: studies of 432 trisomic fetuses and liveborns. Hum Genet 1994; 94(4): 411-417.




Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006