Nationwide prevalence of human papillomavirus infection and viral genotype distribution in 37 cities in China.

Background: Type-specific high-risk HPV (hrHPV) infection is related to cervical carcinogenesis. The prevalence of hrHPV infection varies geographically, which might reflect the epidemiological characteristics of cervical cancer among different populations. To establish a foundation for HPV-based screening and vaccination programs in China, we investigated the most recent HPV prevalence and genotypic distributions in different female age groups and geographical regions in China.

Detection of α-globin gene deletion and duplication using quantitative multiplex PCR of short fluorescent fragments.

Background: The aim of this study was to establish a sensitive method that can detect the presence of not only the common but also the unusual or unknown α-globin gene deletions for screening of α-thalassemia. We used quantitative multiplex PCR of short fluorescent fragments (QMPSF) for the α-globin genes (HBA) to screen α-thalassemia deletions.

Methods: We set up and validated HBA-QMPSF using 50 negative and 100 positive controls of deletional α-thalassemia.

[Beta-thalassemia major caused by compound heterozygosity for +40 to +43(-AAAC), IVS-2-654 (C to T) and codon 41/42 (-TCTT)].

Objective: To report the analysis of a rare beta-thalassemia ternary heterozygote [+40 to +43(-AAAC)*CD41/42(-TTCT)*IVS-2-654] causing beta-thalassemia major in a Chinese.

Methods: Using PCR-ASO probe hybridization analysis to scan 17 known types of beta-thalassemia mutations, and gene cloning and DNA sequencing to identify the underlying causative mutation.

Results: Reverse dot blot (RDB) analysis showed that the patient's beta-globin gene had three mutations: +40 to +43(-AAAC), CD41/42(-TCTT) and IVS-2-654(C to T).