• JIAN GAO

      Articles written in Journal of Genetics

    • Illumina-based de novo transcriptome sequencing and analysis of Chinese forest musk deer

      ZHONGXIAN XU HANG JIE BINLONG CHEN UMA GAUR NAN WU JIAN GAO PINMING LI GUIJUN ZHAO DEJUN ZENG MINGYAO YANG DIYAN LI

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      The Chinese forest musk deer (Moschus berezovskii Flerov) is an endangered artiodactyl mammal. The musk secreted by sexually mature males is highly valued for alleged pharmaceutical properties and perfume manufacturing. However, the genomic and transcriptomic resources of musk deer remain deficiently represented and poorly understood. Next-generation sequencing technique is an efficient method for generating an enormous amount of sequence data that can represent a large number of genes and theirexpression levels. In the present study, we used Illumina HiSeq technology to perform de novo assembly of heart and musk gland transcriptomes from the Chinese forest musk deer. A total of 239,383 transcripts and 176,450 unigenes were obtained, of which 37,329 unigenes were matched to known sequences in the NCBI nonredundant protein (Nr) database; 31,039 unigenes were assignedto 61 GO terms, and 11,782 to 332 KEGG pathways. Additionally, 592 and 2282 differentially expressed genes were found to be specifically expressed in the heart and musk gland, respectively. The abundant transcriptomic data generated in the present report will provide a comprehensive sequence resource for Chinese forest musk deer as well as lay down a foundation which will help inaccelerating genetic and functional genomics research in this species.

    • Molecular variation and population structure in endangered Limonium bicolor: genetic diversity of microsatellite markers and amplified fragment length polymorphism analysis

      GE DING DAIZHEN ZHANG FENG XUE JIAN GAO KAI-WUN YEH

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      Knowledge and analysis of the genetic structure of an endangered species is important for its conservation and evolutionary process. Simple sequence repeats (SSRs) and amplified fragment length polymorphisms (AFLPs) were used in evaluation of the genetic diversity and population differentiation in Limonium bicolor (Plumbaginaceae), an endangered herb with high medicinal and horticulture value. A total of 117 alleles were detected with an average 5.85 alleles per locus using SSR and 222 bands from AFLP were amplified in six populations. It was found that L. bicolor was characterized by high levels of genetic polymorphism (100 and 83.78%), low levels of total genetic diversity (Ht = 0.2824 and 0.2424), and moderate degrees of genetic differentiation among populations (ΦST = 0.284 and 0.251). Analysis of molecular variance (AMOVA) revealed that the main variation component existed within populations (71.56%; 74.93%) rather than among populations (28.44%; 25.07%). Four main clusters were displayed in the UPGMA using TFPGA, which was consistent with the result of principal coordinate analysis (PCA) using NTSYS. Mutations or infrequent gene flow among populations can increase the plant slowly, thus in situ conservation policies should be implemented first for effective and sustainable development. At the same time, ex situ measures, such as those individuals with rare alleles, to maintain the relationships between individuals and populations are also proposed.

    • Prenatal diagnosis and neonatal phenotype of a de novo microdeletion of 17p11.2p12 associated with Smith–Magenis syndrome and external genital defects

      PINGPING ZHANG YANMEI SUN HAISHEN TIAN LIMIN RONG FANGNA WANG XIAOPING YU YALI LI JIAN GAO

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      Smith–Magenis syndrome (SMS, OMIM: 182290) is a multiple congenital anomalies and intellectual disability syndrome due to a 3.45 Mb microdeletion involving 17p11.2 and is estimated to occur about one in 25,000 births. Up to now, the ultrasound findings of the foetus with SMS and their external genital defects in patients are rarely reported. This case indicates that foetus with SMS may presentpolyhydramnios and ventriculomegaly in the second trimester. The newborn male patient had an abnormal phenotype in which he has micropenis and his anus is close to the perineal body. The identification of this case may further expand the phenotypic spectrum of this genetic disorder.

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