Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP)

Prenatal Diagnosis

Volumn 16, Issue 9, 1996, Pages 862-865

  Parvari, R ^a   Hershkovitz, E ^a   Carmi, R ^a   Moses, S ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

Glycogen storage disease type 1a; Mutations; SSCP analysis

Indexed keywords

DNA; GLUCOSE 6 PHOSPHATASE;

AMNION CELL; ARTICLE; CASE REPORT; CHORION VILLUS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA DETERMINATION; EMBRYO; ENZYME ACTIVITY; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 1; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INFANT; INTESTINE MUCOSA; JEW; KIDNEY; LIVER; METABOLIC DISORDER; MOLECULAR CLONING; PREGNANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

CHORIONIC VILLI SAMPLING; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FETAL DISEASES; GLYCOGEN STORAGE DISEASE; HUMANS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREGNANCY; PREGNANCY COMPLICATIONS;

EID: 0029815386     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199609)16:9<862::AID-PD954>3.0.CO;2-9     Document Type: Article

References (12)

1. Cuppens, H., Cassiman, J.-J. (1995). A quality control study of CFTR mutation screening in 40 different laboratories, Eur. J. Hum. Genet., 3, 235-245.
2. Desgeorges, M., Boulot, P., Kjellberg, P., Lefort, G., Rolland, M., Demaille, J., Claustres, M. (1993). Prenatal diagnosis for cystic fibrosis using SSCP analysis, Prenat. Diagn., 13, 147-148.
3. Gudanson, V., Mak, Y.T., Betteridge, J., McCarthy, S.N., Humphries, S. (1993). Use of the single strand conformational polymorphism method to detect recurrent and novel mutations in the low-density lipoprotein receptor gene in patients with familial hypercholestrolemia: detection of a novel mutation Asp 200→Gly, Clin. Invest., 71, 331-337.
4. Iolascon, A., Parrella, T., Perrotta, S., Guardamagna, O., Coates, P.M., Sartore, M., Surrey, S., Fortina, P. (1994). Rapid detection of medium acyl CoA dehydrogenase gene mutations by non-radiactive, single strand conformation polymorphism minigels, J. Med. Genet., 31, 551-554.
5. Kneppers, A.L., Deutz-Terlouw, P.P., den-Dunnen, J.T., van-Ommen, G.J., Bakker, E. (1995). Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis, Hum. Mutat., 5, 235-242.
6. Lee, P.J.,Feske, C., Leonard, V.J. (1995). Screening for mutations in the glucose-6-phosphatase gene - clues for varying phenotypes?, SSIEM, 33rd Annual Symposium, Toledo, 240.
7. Lei, K.-J., Shelly, L.L., Pan, L.Y., Sidbury, J.B., Chou, J.Y. (1993). Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type la, Science, 262, 580-583.
8. Lei, K.-J., Chen, Y-T., Chen, H., Wong, L-J.C., Liu, J-L., McConkie-Rosell, A., Van Hove, J.L.K., Ou, H.C.Y., Yeh, N.J., Pan, L.Y., Chou, J.Y. (1995). Genetic basis of glycogen storage disease type la: prevalent mutations at the glucose-6-phosphatase locus, Am. J. Hum. Genet., 57, 766-771.
9. Leren, T.P., Solberg, K., Rodningen, O.K., Tnstand, S., Ose, L. (1994). Two founder mutations in the LDL receptor gene in Norwegian familial hypercholestrolemia subjects, Atherosclerosis, 111, 175-182.
10. Moses, S.W. (1990). Pathophysiology and dietary treatment of the glycogen storage diseases, J. Pediatr. Gastroenterol., 11, 155-173.
11. Parvari, R., Moses, S., Hershkovitz, E., Carmi, R., Bashan, N. (1995). Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type la: R83C in six Jews and a novel V166G mutation in a Muslim Arab, J. Inher. Metab. Dis., 18, 21-27.
12. Siegel, S.F., Hoffman, E.P., Trucco, M. (1994). Molecular diagnosis of 21-hydroxylase deficiency: detection of four mutations on a single gel, Biochem. Med. Metab. Biol., 51, 66-73.