SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick disease type C

Prenatal Diagnosis

Volumn 21, Issue 1, 2001, Pages 55-57

  Tsukamoto, Hiroko ^a   Yamamoto, Toshiyuki ^b   Nishigaki, Toshinori ^a   Sakai, Norio ^a   Nanba, Eiji ^b   Ninomiya, Haruaki ^b   Ohno, Kousaku ^b   Inui, Koji ^a,c   Okada, Shintaro ^a  

^a OSAKA UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

Mutation; Niemann Pick disease type C; NPC1; Polymorphism (SSCP); Prenatal diagnosis; Single strand conformation

Indexed keywords

COMPLEMENTARY DNA; RNA;

AMNIOTIC FLUID CELL; ARTICLE; BIRTH; CASE REPORT; CHOLESTEROL ESTERIFICATION; FEMALE; GENE DELETION; HETEROZYGOTE; HUMAN; INTRON; MISSENSE MUTATION; NIEMANN PICK DISEASE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AMNIOCENTESIS; CHILD, PRESCHOOL; FEMALE; GESTATIONAL AGE; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; NIEMANN-PICK DISEASES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREGNANCY; PRENATAL DIAGNOSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0035140109     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200101)21:1<55::AID-PD23>3.0.CO;2-M     Document Type: Article

References (21)

1. Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
2. The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097 > T transversion in NPC1
3. Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain
4. Simple and rapid preparation of samples for PCR
5. Molecular diagnosis of Prader-Willi syndrome: Parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms
6. Niemann-Pick C1 Disease: The I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classical juvenile phenotype
7. Niemann-Pick C disease: Cholesterol handling gone away
8. The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene
9. Altered sensitivities to potential inhibitors of cholesterol biosynthesis in Niemann-Pick type C fibroblasts
10. Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformation polymorphisms
11. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients
12. Type C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts
13. Niemann-Pick disease type C: A cellular cholesterol lipidosis
14. Niemann-Pick diseases
15. Recent advances in elucidating Niemann-Pick C disease
16. Diagnosis of Niemann-Pick disease type C on chorionic villus cells
17. Prenatal diagnosis of Niemann-Pick type C disease: Current strategy from an experience of 37 pregnancies at risk
18. Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridization and linkage analysis
19. Niemann-Pick C disease: Mutational spectrum in NPC1 gene and genotype/ phenotype correlations
20. NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C