Molecular identification and genetic analysis of cherry are necessary for solving the problem of synonyms and homonyms that occur in cherry production. In this study, capillary electrophoresis with fluorescent-labeled simple sequence repeat (SSR) primers was used to identify 63 cherry cultivars (varieties and rootstocks) planted in Shaanxi province, China. A total of 146 alleles were amplified by 10 SSR primer pairs, ranging from 10 to 20 per locus (mean: 14); among the SSR primer pairs, genotype number ranged from 12 to 26 (mean: 18). The mean values of gene diversity, heterozygosity, and polymorphism information content were 0.7549 (range 0.4011-0.8782), 0.5952 (range 0.3810-0.9683), and 0.7355 (range 0.3937-0.8697), respectively. An unweighted pair-group method with arithmetic average cluster analysis was used to separate the cherry cultivars. A model-based structure analysis separated the cultivars into three populations, which was consistent with the results of a phylogenic and principal component analysis. Based on Bayes' rule, the cultivars were further subdivided into seven populations. Some of the 63 cherry cultivars that are often confused in production were distinguished, and DNA fingerprinting of cherry cultivars was established. This research will significantly assist in the identification of cherry cultivars at the molecular level.

Hemophilia A is an x-linked recessive inherited bleeding disorder. So far, more than 1,885 disease-causing mutations of factor VIII gene have been identified. Clinic confers a great challenge for the molecular diagnosis. We aim to make a better strategy for the molecular diagnosis in Hemophilia A. First, factor VIII intron 22 inversion and intron 1 inversion mutations were detected using Inversion-PCR and double-tube multiple PCRs. And then, non-inversion mutations were analyzed by denaturing high performance liquid chromatography and/or direct sequencing. Novel mutations were further analyzed the conservation and 3D structures by a B domain deleted crystallographic model and bioinformatics. Finally, we can indirectly confirm the diagnosis by linkage analysis for the patients with the confusing diagnosis by the techniques mentioned above. Eleven patients with the factor VIII Inv 22 were found, and the remaining 16 patients were found with 11 different mutations, of which 3 was novel mutations affecting A1, B domains and splicing site. Moreover, the prenatal diagnosis was performed on 14 fetuses. Ten fetuses were successfully confirmed to be normal, 1 fetus to be a heterozygote with factor VIII c.3275-3276 ins A and 3 fetuses to be hemizygotes with factor VIII Inv 22 mutation.

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A 6-day-old female patient suddenly died of congestive heart failure, hepatomegaly and hypoglycemic encephalopathy. Tandem mass spectrometry (MS) analysis revealed a possibility of carnitine deficiency. However, many of the clinical symptoms had not yet occurred at that time, and the clinical data was incomplete. We aim to derive a systematic procedure of identifying pathogenic mutations for similar patients. Physicians could save patients' lives with effective treatment at a much earlier stage. Direct sequencing of the exons and exon-intron boundaries of GAA, SLC25A5, CPT1, CPT2, SLC25A20 and MUT genes were performed on the parents of the patient. DNA from the blood spots of the patient was analyzed for the MUT gene. The results revealed that the patient was a compound heterozygote with MUT. c. 729_730insTT and c. 1677-1G>A. cDNA sequence demonstrated MUT c. 1677-1G>A resulting in the deletion of eight nucleotides and the introduction of 13 novel amino acids before premature termination.