Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA.
BACKGROUND
Oculocutaneous albinisms (OCAs) are due to various gene mutations that cause a disruption of melanogenesis in the melanocyte. Four different genes associated with human OCA have been reported, however, not all of OCA patients can be classified according to these four genes. We have sought to find a new major locus for Japanese OCA. Recently two genes, RAB38 and RAB7, were reported to play an important role in melanogenesis in the melanocyte, suggesting that these two genes could be good candidates for new OCA loci.


OBJECTIVE
To determine the structures of the human RAB38 and RAB7 genes, and examine if the two genes are new major loci for Japanese OCA.


METHODS
We screened mutations in these genes of 25 Japanese OCA patients who lacked mutations in the OCA1 and OCA2 genes with SSCP/heteroduplexes method.


RESULTS
We determined the both genes, and their genomic organizations to design the primers for SSCP/heteroduplexes method. And then we screened mutations, but no mutation was detected.


CONCLUSIONS
Neither of the genes is a new major locus for Japanese OCA.
Suzuki
Tamio
T
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, 466-8550, Nagoya, Japan. tsauzuki@med.nagoya-u.ac.jp
Miyamura
Yoshinori
Y
Inagaki
Katsuhiko
K
Tomita
Yasushi
Y
D000293:Adolescent; D000328:Adult; D000368:Aged; D016115:Albinism, Oculocutaneous / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D020180:Heteroduplex Analysis; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D018807:Polymorphism, Single-Stranded Conformational; D020691:rab GTP-Binding Proteins / Q000235:genetics*; D000090802:rab7 GTP-Binding Proteins
D018076:DNA, Complementary; D000090802:rab7 GTP-Binding Proteins; C000716463:rab7 GTP-binding proteins, human; C412058:RAB38 protein, human; D020691:rab GTP-Binding Proteins