ABSTRACT
【Objective】 To explore the molecular hereditary and frequency of Jk(a-b-) in blood donors in Yichang. 【Methods】 A total of 49 999 samples from Yichang Red Cross Central Blood Station were screened for Jk(a-b-) by urea hemolysis test(2 mol /L). The phenotypes of JK (a-b -) probands and their families were confirmed by monoclonal anti-Jka and anti-Jkb, and the whole exon of SLC14A1 gene was sequenced. 【Results】 The frequency of Jk(a-b-) in Yichang blood donors was 0.004% (2/49 999), and the exon sequencing of SLC14A1 gene confirmed that both two probands were JK*02N.01 caused by c. 342-1G>A homozygous mutation.Besides, JK*01W.01 allele was observed in the pedigree analysis, and weak expression of Jka was found in 4 out of 11 family members. 【Conclusion】 The frequency of JK (a-b -) in Yichang blood donors is similar to those in Shanghai 0.004%(2/48 400), and both caused by JK * 02N.01 allele with high frequency in Southeast Asia. The epidemiological survey of JK * 01w.01 allele frequency should be further performed.
ABSTRACT
Objective: To study the role of auto-antibody in the diagnosis of patients with PBC. Methods: ANA, SMA and AMA in serum of 58 PBC patients were tested by indirect immune fluorescence and Western blot. Such auto-antibodies as Anti-type AMAM2,anti-SLA/LP, anti-LKM-1 and anti-LC-1 were also identified. Results: Auto-antibodies existing in patients with PBC were mainly AMA(96.5%) and AMAM2(93.1%) and the titer was beyond 1∶100. 8 cases of those patients were positive with ANA and SMA simultaneously. One case had positive AMA and SLA/LP in serum and the clinical appearances were the same as those of type Ⅰ and type Ⅲ autoimmune hepatitis. 19 patients with positive AMAM2 in serum had liver-puncture and the results suggested the diagnosis of PBC in 63.7%(12/9). Conclusion: Test of auto-antibodies is clinically significant for the diagnosis of autoimmune hepatitis.