Articles written in Journal of Genetics

    • Improvement of the sensitivity and resolution of PCR-SSCP analysis with optimized primer concentrations in PCR products

      Xilin Zhu Nifang Niu Yang Liu Te Du Dongmei Chen Xin Wang Harvest F. Gu Ying Liu

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    • Combined effect between two functional polymorphisms of SLC6A12 gene is associated with temporal lobe epilepsy

      Jingyun Li Hua Lin Fenghe Niu Xilin Zhu Ning Shen Xin Wang Liping Li Aihua Liu Xiaopan Wu Wei Sun Yuping Wang Ying Liu

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      Temporal lobe epilepsy (TLE) is the most common epilepsy subtype with complex genetic structure. A recent study in four populations (Ireland, UK, Australia and Finland) reported an allelic association between betaine/GABA transporter-1 (𝐵𝐺𝑇-1 or 𝑆𝐿𝐶6𝐴12) and mesial temporal lobe epilepsy with hippocampal sclerosis. To demonstrate the association between 𝑆𝐿𝐶6𝐴12 gene polymorphisms and TLE, TaqMan method was used to genotype five single-nucleotide polymorphisms of 𝑆𝐿𝐶6𝐴12 gene in 358 TLE patients and 596 nonepileptic control subjects of Chinese Han origin. Real-time PCR was used to detect the effects of variations on gene expression associated with TLE. Though, the single-marker analysis did not demonstrate allelic association with TLE, rs542736–rs557881 interaction showed significant association. The 𝑆𝐿𝐶6𝐴12 expression levels in peripheral blood mononuclear cells were significantly higher in TLE patients than in control subjects and were correlated to rs542736 G–rs557881 A haplotypes. Our preliminary results suggested combined effect of two common polymorphisms on SLC6A12 gene may be associated with TLE, but the precise mechanism needs further investigation.

    • Identification of sex using SBNO1 gene in the Chinese softshell turtle, Pelodiscus sinensis (Trionychidae)

      LAN ZHAO XIN WANG Qiu-Hong Wan Sheng-Guo Fang

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      The Chinese softshell turtle exhibits ZZ/ZW sex determination. To identify the sex of embryos, juvenile and adult individuals, we designed two pairs of polymerase chain reaction primers, SB1-196, which amplifies a fragment of 196 bp in the female and the other, CK1-482, which amplifies the 482-bp fragment in both the sexes. It is validated in 24 adult turtles of known sex, sampled from three different locations. This one-step sexing technique is rapid and easy to perform and is reported for the first time.

    • Cytogenetic analysis of 2959 couples with spontaneous abortion and detailed analysis of rare karyotypes


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      Chromosome abnormality is one of the important causes of spontaneous abortion. However, due to regional and ethnic differences, the reported rates of chromosomal abnormalities in patients with spontaneous abortion vary greatly. At present, there is no large sample statistics of chromosome abnormality in patients with spontaneous abortion in Yantai, Shandong province, China and hence 2959 couples (5918 individuals) with spontaneous abortion were recruited for this study. G banding was used to examine the karyotype of patients. The results showed that chromosomal abnormalities were present in 173 of 2959 couples with the rate of 5.85%. Female carriers were significantly higher than male. Chromosomal abnormality rate was positively correlated with the number of spontaneous abortions. Structural aberrations were significantly greater than numerical aberrations, with a prevalence of 92.49% and 7.51%, respectively. Balanced translocation, Robertson translocation and inversion were the most common types of chromosomal structural abnormalities. Among them, the proportion of balanced translocation was the highest (63.13%, 101/160). In addition, three cases of rare complex abnormal karyotype were detected. In summary, chromosome abnormality could be one of the important causes of spontaneous abortion in Yantai, Shandong province, China. The sex of patients with chromosomal abnormalities and the number of spontaneous abortions should be considered in genetic counselling. When one of the partners have chromosome abnormality, preimplantation genetic diagnosis and prenatal diagnosis could play a great significance for preventing the birth of children with chromosomal diseases and reducing birth defects.

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