Preimplantation diagnosis for Huntington's disease (HD): Clinical application and analysis of the HD expansion in affected embryos

Prenatal Diagnosis

Volumn 18, Issue 13, 1998, Pages 1427-1436

  Sermon, K ^a   Goossens, V ^a   Seneca, S ^a   Lissens, W ^a   De Vos, A ^b   Vandervorst, M ^b   Van Steirteghem, A ^b   Liebaers, I ^a  

^a VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

^b CENTRE FOR REPRODUCTIVE MEDICINE   (Belgium)

Author keywords

Huntington's disease; Preimplantation genetic diagnosis; Single cell PCR; Triplet repeat expansion

Indexed keywords

ARTICLE; CODON; EMBRYO; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUNTINGTON CHOREA; MOTOR DYSFUNCTION; POLYMERASE CHAIN REACTION; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; BLASTOMERES; CELL LINE, TRANSFORMED; EMBRYONIC DEVELOPMENT; FEMALE; GENOTYPE; HERPESVIRUS 4, HUMAN; HETEROZYGOTE; HUMANS; HUNTINGTON DISEASE; LYMPHOCYTES; MALE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY;

EID: 0032413395     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199812)18:13<1427::AID-PD493>3.0.CO;2-3     Document Type: Article

References (20)

1. Andrew, S.E., Goldberg, Y.P., Theilmann, J., Zeisler, J., Hayden, M.R. (1994). A CCG repeat polymorphism in the Huntington disease gene: implications for diagnostic accuracy and predictive testing, Hum. Molec. Genet., 3, 65-67.
2. Chong, S.S., Almqvist, E., Telenius, H., La Tray, L., Nichol, K., Bourdelat-Parks, B., Goldberg, Y.P., Haddad, B.R., Richards, F., Sillence, D., Greenberg, C.R., Ives, E., Van den Engh, G., Hughes, M.R., Hayden, M.R. (1997). Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses, Hum. Molec. Genet., 6, 301-309.
3. Evers-Kiebooms, G., Fryns, J.P., Demyttenaere, K., Decruyenaere, M., Boogaerts, A., Cloostermans, T., Cassiman, J.J., Dom, R., Van den Berghe, H. (1996). Predictive and preimplantation genetic testing for Huntington's disease and other late onset dominant disorders: not in conflict but complementary, Clin. Genet., 50, 275-276.
4. Kremer, B., Almqvist, E., Theilmann, J., Spence, N., Telenius, H., Goldberg, Y.P., Hayden, M.R. (1995). Sex dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes, Am. J. Hum. Genet., 57, 343-350.
5. Leeflang, E.P., Zhang, L., Tavaré, S., Hubert, R., Srinidhi, J., MacDonald, M.E., Myers, R.H., de Young, M., Wexler, N.S., Gusella, J.F., Arnheim, N. (1995). Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum, Hum. Molec. Genet., 4, 1519-1526.
6. Liebaers, I., Sermon, K., Staessen, C., Joris, H., Lissens, W., Van Assche, E., Nagy, P., Bonduelle, M., Vandervorst, M., Devroey, P., Van Steirteghem, A. (1998). Clinical experience with preimplantation genetic diagnosis and intracytoplasmic sperm injection, Hum. Reprod., 13 (Suppl. 1), 186-195.
7. Lissens, W., Sermon, K. (1997). Preimplantation genetic diagnosis: current status and new developments, Hum. Reprod., 12, 1756-1761.
8. Ranen, N.G., Stine, O.C., Abbott, M.H., Sherr, M., Codori, A.-M., Franz, M.L., Chao, N.I., Chung, A.S., Pleasant, N., Callahan, C., Kasch, L.M., Ghaffari, M., Chase, G.A., Kazazian, H.H., Brandt, J., Folstein, S.E., Ross, C.A. (1995). Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease, Am. J. Hum. Genet., 57, 593-602.
9. Reiss, O., Noerremoelle, A., Soerensen, S.A., Eppelen, J. (1993). Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease, Hum. Molec. Genet., 2, 637.
10. Rubinsztein, D.C., Barton, D.E., Davison, B.C.C., Ferguson-Smith, M.A. (1993). Analysis of the Huntington gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number, Hum. Molec. Genet., 2, 1713-1715.
11. Rubinsztein, D.C., Leggo, J., Coles, R., Almqvist, E., Biancalana, V., Cassiman, J.-J., Chotai, K., Connarty, M., Craufurd, D., Curtis, A., Curtis, D., Davidson, M.J., Differ, A.-M., Dode, C., Dodge, A., Frontali, M., Ranen, N.G., Stine, O.C., Sherr, M., Abbott, M.H., Franz, M.L., Graham, C.A., Harper, P.S., Hedreen, J.C., Jackson, A., Kaplan, J.-C., Losekoot, M., Macmillan, J.C., Morrison, P., Trottier, Y., Noveletto, A., Simpson, S.A., Theilmann, J., Whittaker, J., Folstein, S.E., Ross, C.A., Hayden, M.R. (1996). Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats, Am. J. Hum. Genet., 59, 16-22.
12. Schulmann, J., Black, S.H., Handyside, A., Nance, W.E. (1996). Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders, Clin. Genet., 49, 57-58.
13. Sermon, K., Lissens, W., Joris, H., Seneca, S., Desmyttere, S., Devroey, P., Van Steirteghem, A., Liebaers, I. (1997). Clinical application of preimplantation diagnosis for myotonic dystrophy, Prenat. Diagn., 17, 925-932.
14. Sermon, K., De Vos, A., Van de Velde, H., Seneca, S., Lissens, W., Joris, H., Vandervorst, M., Van Steirteghem, A., Liebaers, I. (1998). Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease), Molec. Hum. Reprod., 4, 791-796.
15. Smitz, J., Devroey, P., Camus, M., Deschacht, J., Khan, I., Staessen, C., Van Waesberghe, L., Wisanto, A. and Van Steirteghem, A. (1988) The luteal phase and early pregnancy after combined GnRH-agonist/HMG treatment for superovulation in IVF or GIFT. Hum. Reprod., 3, 585-590.
16. Telenius, H., Almqvist, E., Kremer, B., Spence, N., Squitieri, F., Nichol, K., Grandell, U., Starr, E., Benjamin, C., Castaldo, I., Calabrese, O., Anvret, M., Goldberg, Y.P., Hayden, M.R. (1995). Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease, Hum. Molec. Genet., 4, 189-195.
17. The Huntington's Disease Collaborative Research Group. (1993). A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes, Cell, 72, 971-983.
18. Trottier, Y., Biancalana, V., Mandel, J.-L. (1994). Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset, J. Med. Genet., 31, 377-382.
19. Van Steirteghem, A., Joris, H., Liu, J. et al. (1995). Protocol for intracytoplasmic sperm injection. Hum. Reprod., Update, 1, CD-ROM, item 3.
20. Ventura, M., Gibaud, A., Le Pendu, J. 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.