| Co-Investigator(Kenkyū-buntansha) |
AMAGAI Masayuki Keio Univ, Sch, Med., Assist.Prof., 医学部, 講師 (90212563)
HASHIMOTO Takashi Kurume Univ.Shc.Med., Professor, 医学部・皮膚科, 教授 (20129597)
NISHIKAWA Takeji Keio Univ, Sch, Med., Professor, 医学部, 教授 (50051579)
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| Research Abstract |
Laminin 5 is a candidate gene/protein system for most patients with junctional epidermolysis bullosa (JEB), a heterogeneous conditions with descriptions of both lethal and non-lethal variants. Laminin 5 consists of three subunit polypeptide chains, a3, b3 and g2, encoded by distinct genes LAMA3, LAMB3 and LAMC2, respectively. Recent study indicated that the two mutational hotspots in LAMB3 gene, R42X and R635X,were noted in over 50% of the mutant LAMB3 alleles in JEB.To elucidate the prevalence of these mutational hotspots in Japanese patients with JEB,genomic DNA from 12 distinct families with JEB were analyzed by PCR,heteroduplex and restriction enzyme digestion system. As results, no R42X and R635X mutations were detected in any of 24 alleles wer have examined. These results indicated that the mutational hotspots of laminin 5 in Japanese JEB might be different from those of Caucasians. Subsequently, we have found two new mutations of LAMB3 gene in two unrelated Japanese family with Herlitz JEB.Based on these data, we have successfully performed DNA based prenatal diagno is for the fetuses at risk in those two families.
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