Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: Implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa

Journal of Dermatological Science

Volumn 44, Issue 1, 2006, Pages 48-51

  Liu, Lu ^a   Choy, Yew Sing ^b   Wessagowit, Vesarat ^a   Ozoemena, Linda ^a   Dopping Hepenstal, Patricia J C ^a   Fassihi, Hiva ^a   McGrath, John A ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b HOSPITAL KUALA LUMPUR   (Malaysia)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PRIMER DNA;

AUTOSOMAL RECESSIVE DISORDER; BLISTER; CASE REPORT; CONTROLLED STUDY; DELETION MUTANT; DNA FLANKING REGION; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEQUENCE; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LAMB3 GENE; LETTER; MALE; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN DEFECT; SKIN DISEASE;

BASE SEQUENCE; CELL ADHESION MOLECULES; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; HAPLOTYPES; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 33748297533     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2006.05.009     Document Type: Letter

References (8)

1. Uitto J., and Richard G. Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol 23 (2005) 33-40
2. Pulkinnen L., McGrath J.A., Christiano A.M., and Uitto J. Detection of sequence variants in the gene encoding the β3 chain of laminin 5 (LAMB3). Hum Mutat 6 (1995) 77-84
3. Christiano A.M., Pulkkinen L., McGrath J.A., and Uitto J. Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn 17 (1997) 343-354
4. Pulkkinen L., and Uitto J. Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol 18 (1999) 29-42
5. Cserhalmi-Friedman P.B., Tang Y., Adler A., Krey L., Grifo J.A., and Christiano A.M. Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. Exp Dermatol 9 (2000) 290-297
6. Fassihi H., Ashton G., Denyer J., Mellerio J.E., Mason G., and McGrath J.A. Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins. Clin Exp Dermatol 30 (2005) 180-182
7. Ashton G.H., Mellerio J.E., Dunnill M.G., Pulkkinen L., Christiano A.M., Uitto J., et al. A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele. Br J Dermatol 136 (1997) 674-677
8. Takizawa Y., Shimizu H., Pulkkinen L., Hiraoka Y., McGrath J.A., Suzumori K., et al. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. J Invest Dermatol 110 (1998) 174-178