目的分析大骨节病(Kashin—Beck disease,KBD)病区患者与非患者在12号染色体上5个短串联重复序列(short tandem repeat,STR)位点的多态性并比较其差异。方法在陕西省KBD病区选择KBD患者(病例组)和非KBD患者(对照组)各50人,采集静脉血,利用PCR扩增和毛细管电泳技术,对12号染色体上5个STR位点(D12S313、D12S304、D12S1640、D12S1708和D12S1583)进行分型,分析各位点在上述人群中的多态性,计算5个位点在相应人群中等位基因与基因型频率,对各位点的等位基因及基因型频率进行比较。结果上述5种位点,病例组分别检出8、6、7、5和11种等位基因以及17、11、15、8和28种基因型;在对照组中检出6、8、6、4和10种等位基因以及13、21、14、8和23种基因型;在D12S304位点,病例组与对照组基因频率的比较。差异有统计学意义(P〈0.05),其中319bp等位基因频率两组间比较,差异有统计学意义(P〈0.00625)。结论D12S304位点与KBD患病存在关联,片段长度为319bp的等位基因可能起一定作用。
Objective To analyze the allele frequencies of 5 short tandem repeat(STR) loci (D12S313, D12S304, D12S1640, D12S1708 and D12S1583) on chromosome 12 among Kashin-Beck disease(KBD) patients and the control population living in the area suffered from KBD. Methods Fifty KBD patients and 50 non-KBD patients were chosen in endemic area of Shaanxi Province, 5 STR loci on chromosome 12 were genotyped by the technology of polymerase chain reaction(PCR) and capillary electrophoresis. The polymorphisms of STR in these populations were analyzed. The allele and genotype frequencies of each STR in the corresponding groups were calculated and compared. Results In KBD group, the 5 STR loci had 8, 6, 7, 5 and 11 types of alleles and 17, 11, 15, $ and 28 genotypes, respectively; while in the control group, the number of allele types of 5 STR loci were 6, 8, 6, 4 and 10, the number of genotype of those loci were 13, 21, 14, 8 and 23, respectively; The allele frequence of D12S304 locus was statistically significant between KBD patients and controls (P 〈 0.05 ), especially for the 319 bp allele(P 〈 0.006 25). Conclusion There is an association between D12S304 locus and KBD. The 319 bp allele might play the key role.