Objective To detect mutations in the OSMR gene in 2 Chinese families with familial primary cutaneous amyloidosis (FPCA),and to analyze their relationship with clinical manifestations.Methods Clinical data were collected from 2 families with FPCA,and genomic DNA was extracted from peripheral blood samples.PCR was performed to amplify 18 exons and their flanking sequences of the OSMR gene followed by DNA sequencing in 2 probands and their family members.One hundred healthy individuals served as controls.Results In the first family,a heterozygous mutation (c.2081C ＞ T) in exon 15 of the OSMR gene,which leads to a codon change at amino acid position 694 (p.P694L),was identified in the proband,as well as in the other 4 patients.In the second family,a heterozygous mutation (c.1538G ＞A) in exon 11 of the OSMR gene,which causes a codon change at amino acid position 513 (p.G513D),was identified in the other proband and her mother,suggesting the cosegregation of the gene mutation with the disease.None of the above mutations were detected in the healthy family members or controls.Conclusion The heterozygous mutations p.P694L and p.G513D in the OSMR gene may be associated with primary cutaneous amyloidosis.

OBJECTIVETo investigate the HLA-A, -B allele polymorphism in the Luoba ethnic population.

METHODSHLA-A, -B DNA types in 92 healthy individuals of Luoba nationality in the Linzhi area, Tibet Autonomous Region, were investigated by polymerase chain reaction-sequence specific oligo-nucleotide (PCR-SSO).

RESULTSTen alleles at HLA-A locus, and 19 alleles at HLA-B locus in Luoba ethnic group were detected. Of the 10 HLA-A alleles detected, the three most common alleles were HLA-A*11(allele frequency: 36.40%), -A*02 (25.50%), -A*24 (23.90%), and they covered 85.80% of the total HLA-A alleles detected from the Luoba ethnic group. Of the 19 HLA-B alleles detected, the three most common alleles were HLA-B*40 (27.20%), -B*15 (11.40%) and -B*38(10.90%), and they covered 49.50% of the total -B alleles detected in the Luoba ethnic group.

CONCLUSIONThe distribution of HLA-A, -B allele polymorphism in the Luoba nationality is distinctive, but some of the gene distribution in the Luoba group is nearer to that in the Tibetan group. These are consistent with the results of ethnological, historical and sociological researches.

Alleles ; Ethnic Groups ; genetics ; Gene Frequency ; HLA Antigens ; genetics ; HLA-B Antigens ; genetics ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; genetics ; Tibet