RESUMO
Objective:The aim of this study was to investigate the carrier ratio and the genotype of thalassemia among Tujia and Miao people of reproductive age in Chongqing.Methods:According to forward-looking design and multi-stage stratified cluster sampling method, fasting venous blood samples of Tujia and Miao people of reproductive age were collected from 11 survey sites in Chongqing from March to July 2019. Gap-PCR and high-throughput sequencing were used to screen thalassemia genes.Results:A total of 516 Tujia people (258 males, 258 females) and 270 Miao people (139 males, 131 females) were included in this study, and their age were (28.63 ± 5.26) and (28.62 ± 5.35) years, respectively. About 5.04% (26/516) Tujia people carried thalassemia gene, with 1.94% (10/516) and 2.52% (13/516) for α and β thalassemia, respectively. Three kinds of new variants (1 case of each variant), HBA 2: c.46G>A (Gly>Ser), HBB: c.*+129T>A and HBB: c.-39T>G with unclear pathogenicity, were identified in Tujia people. About 7.78% (21/270) Miao people carried thalassemia gene, among these, α and β thalassemia were 3.33% (9/270) and 4.44%(12/270), respectively. The most common mutation type of α-globin gene was -α 3.7/in the two ethnic groups. Three kinds of β-globin gene mutation types, Codons 41/42 (-TTCT) beta 0, Codon 17 (A>T) beta 0 and IVS-Ⅱ-654 (C>T) beta +, were the most common in Tujia people. Meanwhile, the chief β-globin gene mutation type was Codons 41/42 (-TTCT) beta 0 in Miao people. Conclusions:The carrying rate of thalassemia gene is higher in Tujia and Miao people in Chongqing, and the genotypes of thalassemia gene are different between Tujia and Miao people. The clinical significance of three kinds of new variants with unclear pathogenicity should be focused on.
RESUMO
Objective To analyze the situation of high-risk human papillomavirus(HPV) infection and its relationship with cervical lesions among rural women in Chongqing City. Methods A total of 20000 rural women were selected from the districts of Wanzhou, Yongchuan,Banan and Tongnan of Chongqing City from January to April 2016. The cervical cancer preliminary screening was performed by detecting HPV gynotyping. The cases of HPV 16 and HPV 18 positive or other 12 high risk HPV types positive with abnormal colposcopy examination conducted the colposcopy fixed point biopsy. Results The positive rate of high-risk HPV infection was 9.66% among rural women in Chongqing City. The positive rates of high-risk HPV infection and different types of high-risk HPV infection had difference among different age groups. Among women of high-risk HPV infection positive, the occurrence rate of CIN1 was 2.33 %,which of CIN2,CIN3 and AIS was 1.35 %,and which of cervical cancer was 0.31%, the incidence rate of different grades of cervical lesions had no statistical difference among different age groups. Among women with different types of high-risk HPV infection,the incidence rate of different grades of cervical lesions in women of HPV 16 positive was highest, those with the other 12 types of high risk HPV positive had the lowest occurrence rate of different grades of cervical lesions, the differences were statistically significant. Conclusion HPV genotyping detection can increase the efficiency of cervical cancer screen ing and is more suitable for the screening of large population.