Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia

Molecular Human Reproduction

Volumn 5, Issue 7, 1999, Pages 691-696

  Van De Velde, H ^a   Sermon, K ^b   De Vos, A ^a   Lissens, W ^b   Joris, H ^a   Vandervorst, M ^a   Van Steirteghem, A ^a   Liebaers, I ^b  

^a CENTRE FOR REPRODUCTIVE MEDICINE   (Belgium)

^b VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

Author keywords

21 Hydroxylase deficiency; Congenital adrenal hyperplasia (CAH); Fluorescent PCR analysis; Preimplantation genetic diagnosis (PGD)

Indexed keywords

ALDOSTERONE; ANDROGEN; HYDROCORTISONE; STEROID 21 MONOOXYGENASE;

ALLELE; ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; FETUS; FLUORESCENCE; GENE MUTATION; GENETIC RISK; HETEROZYGOTE; HUMAN; HUMAN CELL; POLYMERASE CHAIN REACTION; PREIMPLANTATION EMBRYO; PRIORITY JOURNAL; STEROID 21 MONOOXYGENASE DEFICIENCY; VIRILIZATION;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; ALTERNATIVE SPLICING; AUTOMATION; BLASTOCYST; CONSANGUINITY; EMBRYONIC AND FETAL DEVELOPMENT; FEMALE; FERTILIZATION IN VITRO; HETEROZYGOTE DETECTION; HUMANS; INTRONS; LYMPHOCYTES; MALE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; PREGNANCY; RNA, MESSENGER; SEMEN; STEROID 21-HYDROXYLASE;

EID: 0032980524     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/5.7.691     Document Type: Article

References (26)

1. Day, J.D., Speiser, P., Schulze, E. et al. (1996) Identification of non-amplifying CYP21 genes using PCR-based diagnosis of 21-hydroxylase deficiency in congenital addrenal hyperplasia (CAH) affected pedigrees. Hum. Mol. Genet., 5, 2039-2048.
2. De Vos, A., Nagy, Z.P., Van de Velde, H. et al. (1997) Percoll gradient centrifugation can be omitted in sperm preparation for intracytoplasmic sperm injection. Hum Reprod., 12, 1980-1984.
3. De Vos, A., Sermon, K., Van de Velde, H. et al. (1998) Pregnancy after preimplantation genetic dignosis for Charcot-Marie-Tooth disease type 1A. Mol. Hum. Reprod., 4, 978-984.
4. Donohoue, P.A., Parker, K. and Migeon, C.J. (1995) Congenital adrenal hyperplasia. In Scriver, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic and Molecular Bases of inherited Disease. 7th edn. McGraw-Hill Inc. New York, NY, USA, pp. 2929-2966.
5. Federman, D.D. (1987) Psychosexual adjustment in congenital adrenal hyperplasia. N. Engl. J. Med., 316, 209-211.
6. Findlay, I., Ray, P., Quirke, P. et al. (1995) Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum. Reprod., 10, 1609-1618.
7. Higashi, Y., Yoshioka, H., Yamane, M. et al. (1986) Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudegene and a genuine gene. Proc. Natl. Acad. Sci. USA, 83, 2841-2845.
8. Higashi, Y., Hiromasa, T., Tanae, A. et al. (1991) Effeccts of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency. J. Biochem., 109, 638-644.
9. Joris, H., Nagy, Z., Van de Velde, H. et al. (1997) Intracytoplasmic sperm injection: laboratory set-up and injection procedure. Hum. Reprod., 13 (Suppl. 1), 76-86.
10. Kruger, T.F., Menkveld, R., Stander, F.S.H. et al. (1986) Sperm morphologic features as a prognostic factor in in vitro fertilization. Fertil. Steril., 46, 1118-1123.
11. Lissens, W. and Sermon, K. (1997) Preimplantation genetic diagnosis: current status and new developments. Hum. Reprod., 12, 1756-1761.
12. Mulaikal, R.M., Migeon, C.J. and Rock, J.A. (1987) Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N. Engl. J. Med., 316, 178-182.
13. Nagy, Z.P., Liu, J., Joris, H., et al. (1994) Time-course of oocyte activation, pronucleus formation and cleavage in human oocytes fertlilized by intracytoplasmic sperm injection. Hum. Reprod., 9, 1743-1748.
14. Nagy, Z.P., Liu, J., Joris, H. et al. (1995) The influence of the site of sperm deposition and oolemma breakage at intracytoplasmic sperm injection on fertilization and embryo development rates. Hum. Reprod., 10, 3171-3177.
15. Sermon, K., De Vos, A., Van de Velde, H. et al (1998) Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of muotonoc dystrophy (Steinert's disease). Mol. Hum. Reprod., 4, 791-796.
16. Speiser, P., Dupont, J., Zhu, D. et al. (1992) Disease expression and molecular genotype in Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency. J. Clin. Invest, 90, 584-595.
17. Strachan, T. (1990) Molecular pathology of congenital adrenal hyperplasia. Clin. Endocrinol., 32, 373-393.
18. Ubaldi, F., Smitz, J., Wisanto, A. et al. (1995) Oocyte and embryo quality as well as pregnancy rate in intracytoplasmic sperm injection are not affected by high follicular phase serum progesterone. Hum. Reprod., 12, 3091-3096.
19. Urban, M.D., Lee, P.A.and Migeon, C.J. (1978) Adult height and fertility in men with congenital virilizing adrenal hyperplasia. N. Engl. J. Med., 299, 1392-1396.
20. Van de Velde, H., Nagy, Z.P., Joris, H. et al. (1997) Effects of different hyaluronidase concentrations and mechanical procedures for cumulus cell removal on the outcome of intracytoplasmic sperm injection. Hum. Reprod., 12, 2246-2250.
21. Van Steirteghem, A.C., Joris, H., Liu, J. et al. (1995) Protocol for intracytoplamic sperm injection. Hum. Reprod. Update, 1, CD-ROM, item 3.
22. Ventura, M., Gibaud, A., Le Pendu et al. (1988) Use of a simple method for the Epstein-Barr virus transformation of lymphocytes from members of large families of Reunion Island. Hum. Hered., 38, 36-43.
23. Wedell, A. (1998) Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment. Acta Paediatr., 87, 159-164.
24. White, P.C., New, M. and Dupont, B. (1986) Structure of human steroid 21-hydroxylase genes. Proc. Natl. Acad. Sci. USA, 83, 5111-5115.
25. White, P.C. (1989) Analysis of mutations causing steroid 21-hydroxylase deficiency. Endocr. Res., 15, 239-256.
26. World Health Organization (1992) WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction. 3rd edn. Cambridge University Press, Cambridge.