Objective To investigate the genealogical tree of women with Becker muscular dystrophy (BMD).Methods Creatine phosphate kinase(CK), hydroxybutyric dehydrogenase and lactic hydrogenase were determined by selective suppression test, and myohemoglobin was detected by ELISA.DNA from the family members was assayed by PCR and the amplified fragment length polymorphism by silver staining method.Results CK of proband′s mother was above normal.CK and myohemoglobin of proband and his two young sisters were much higher than normal.MP1P 5′CA44 and 49 fragments of proband′s mother from family 1(I2) were heterozygous.Heterozygous fragment wasn′t found in proband′s DNA.Intron 5′CA45 of proband′s two young sisters(II2, II3) was heterozygous.Conclution Proband′s mother is a carrier with abnormal gene of BMD, proband′s father and mother are consanguineous marriage and passed the pathogenic gene to proband and their two daughters.Therefore their son and two daughters are patients with BMD.
To overcome the metabolic instability of cordycepin (adenosine deaminase (ADA) metabolic deamination and plasma degradation) and obtain better bioactivity, three novel kinds of cordycepin derivatives 1a-1c containing unsaturated fatty acids including linoleic acid, arachidonic acid and α-linolenic acid, respectively, were designed and synthesized. In terms of antibacterial activity, the synthesized compounds 1a and 1c showed enhanced activity than cordycepin in the tested bacterial strains. 1a-1c also exhibited enhanced antitumor activity against four cancer cell lines (human cervical cancer cell line HeLa, human non-small cell lung cancer cell line A549, human breast cancer cell line MCF-7, and human hepatoma cell line SMMC-7721) compared with cordycepin. Notably, 1a and 1b showed better antitumor activity even compared with positive control 5-Fluorouracil (5-FU) in HeLa, MCF-7 and SMMC-7721. The cell cycle assay indicated that when compared with cordycepin, 1a and 1b could significantly inhibit the cell propagation trapped in S and G2/M phases and increase the percentage of cells trapped in G0/G1 in HeLa and A549, which might provide a synergistic antitumor mechanism evidence different from cordycepin. Last but not the least, 1a and 1b displayed improved stability both in ADA solution and mouse plasma compared with cordycepin and 1a owns a solubility of 130 μg/mL in PBS. These results offer a novel insight into the primary structure and activity relationship of how the unsaturated fatty acid chain could affect the bioactivity of cordycepin, which also represents a series of cordycepin analogs with obviously improved bioactivity and enhanced stability, therefore promoting its druggable enhancement.