RESUMO
In order to investigate the genetic polymorphism of 13 cytokines genes in Han individuals from Zhejiang. The polymerase chain reaction-sequence specific primers (PCR-SSP) method was used to determine genetic polymorphisms in 100 unrelated healthy Han individuals from Zhejiang province. We found that: (1) The frequency of the TGFbeta (G codon 25) allele is 1.00 and no TGFbeta (C codon 25) allele is found. (2) The frequencies of IL-1alpha(C-889), IL-1beta(C +3962), IL-4 (T-1098), IL-6 (G-174), IL-6 (G nt565), IL-10 (A-1082) and TNFalpha (G-238) alleles are more than 0.95; while the frequencies of IL-1alpha (T-889), IL-1alpha (T +3962), IL-4 (G-1098), IL-6 (A-174), IL-6 (A nt565), IL-10 (G-1082), TNFalpha (A-238) alleles are less than 0.05. (3) The haplotype frequency of the high-producer-type GCC in IL-10 gene is 0.05, while the low-producer-type ATA is 0.735. The haplotype frequency of the high-producer-type TG in the TGFbeta gene is 0.49, while the low-producer-type CC is 0. The haplotype frequency of the high-producer-types AG and AA in the TNFalpha gene is 0.055, while of the low-producer-types GG and GA is 0.945. The results showed that the genetic polymorphism of cytokine genes in Han individuals from Zhejiang Province is distinctive.
Assuntos
Citocinas/genética , Polimorfismo Genético/genética , China , Frequência do Gene , Haplótipos/genética , Humanos , Interleucina-10/genética , Interleucina-1alfa/genética , Interleucina-1beta/genética , Interleucina-4/genética , Interleucina-6/genética , Fator de Crescimento Transformador beta/genética , Fator de Necrose Tumoral alfa/genéticaRESUMO
OBJECTIVE: To analyze the allelic polymorphism of killer cell immunoglobulin-like receptor 2DL3 (KIR2DL3) gene in Zhejiang Han population. METHODS: Allelic of KIR2DL3 was detected by PCR sequence based typing (PCR-SBT) method. Two specific fragments of KIR2DL3 were amplified using different primers and sequenced for exons 4,5,7,8,9 of KIR2DL3. All the samples would be assigned to KIR2DL3 allele according to the polymorphism site patterns. RESULTS: Two KIR2DL3 alleles were observed, with KIR2DL3*001 having higher frequency, 0.77. CONCLUSION: The PCR-SBT method is reliable and there are distinctive frequencies of KIR2DL3 alleles in Zhejiang Han population.
Assuntos
Polimorfismo Genético/genética , Receptores KIR2DL3/genética , Alelos , Sequência de Bases , China , Frequência do Gene , Genótipo , Humanos , Reação em Cadeia da Polimerase , Análise de Sequência de DNARESUMO
OBJECTIVE: To investigate the molecular genetics basis for HLA novel allele HLA-A*3308 in Chinese population. METHODS: DNA was extracted from whole blood by PEL-FREEZ DNA extraction kit. The amplification of HLA-A exons 1-8 of the proband was preformed by PCR and the amplified product was cloned with TOPO cloning sequencing kit to split the two alleles apart. Both strands of exons 2, 3 and 4 of chosen clones were sequenced. The PCR-SSP was performed to confirm the mutations detected by sequencing. RESULTS: The sequencing results showed HLA-A alleles of the proband as A*0201 and the novel allele. The sequences of the novel allele have been submitted to GenBank (DQ089631, DQ089632, DQ089633). BLAST analysis showed that the novel allele got the difference from A*3303 by five nucleotides at positions 240 A>T, 256C>G, 259A>G, 261C>G and 270T>A in exon 2. This resulted in three amino acids changes from Arg to Gly at codon 62, Asn to Glu at codon 63 and Asn to Lys at codon 66. CONCLUSION: This allele is a novel allele and has been officially named A*3308 by the WHO Nomenclature Committee.
