• QI ZHANG

      Articles written in Journal of Genetics

    • Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China

      JING HE SHUWU QI HUIJUN ZHANG JINGJING GUO SHU CHEN QI ZHANG BAOSHENG ZHU

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      Themutations of androgen receptor (AR) gene are the most common cause for complete androgen insensitivity syndrome (CAIS). We aimed to characterize the six cases enrolled in our hospital (the First People’s Hospital of Yunnan, China) and explore the molecular mechanism of CAIS. Between 2010 and 2013, six female cases were enrolled in our hospital for the agenesis of secondary sexual characteristics. The clinical examinations such as sex hormone test and B ultrasound were performed and the genetic characterization of patients were evaluated by karyotype analysis, polymerase chain reaction and DNA sequencing. The six cases with 46, XY karyotype were diagnosed with CAIS and four novel AR mutations were discovered, which were responsible forChinese CAIS. The molecular study of the AR gene facilitated the understanding of the mechanism of CAIS and provided the genetic counselling clinically.

    • Novel alternatively spliced isoforms of MEF2A and their mRNA expression patterns in pigs

      XIAO HONG GUO QI ZHANG MENG LI PENG FEI GAO GUO QING CAO ZHI MIN CHENG NING FANG ZHANG BAO YU LE JIAN FENG LIU XIAO JUN LIU BU GAO LI

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      The present study aimed to identify the alternatively spliced isoforms of pig MEF2A gene and to determine their mRNA expression patterns. Four alternatively spliced isoforms of pig MEF2A gene (i.e. MEF2A1, MEF2A2, MEF2A3 and MEF2A4) were cloned according to the results of transcriptome sequencing. The fifth to eighth exons of MEF2A1 were normally spliced. In MEF2A2, the fifth exon was missing; the sixth exon had an extra 138 bp at its 5' end, and the seventh exon had an extra 102 bp at its 3' end. In MEF2A3, the fifth exon was missing, and the sixth exon had an additional 138 bp at its 5' end. In MEF2A4, the seventh exon had an extra 102 bp at its 3' end. Quantitative real-time polymerase chain reaction (qPCR) analysis indicated that the expression profiles of the four alternatively spliced transcripts in the longissimus dorsi differed between the Mashen and Large White pigs. MEF2A1 and MEF2A2 expression levels were the highest at 90 days of age and lowest at 180 days of age. MEF2A3 and MEF2A4 expression levels increased with age (in days). The four alternatively spliced isoforms of MEF2A were also expressed in the small intestine, cerebellum, pancreas, heart and lung. The discovery of new alternatively spliced transcripts of the MEF2A gene may be utilized in understanding its biological functions.

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