A comparative chromosome study on five Minnow fishes (Cyprinidae, Cypriniformes) in Thailand

The cytogenetic comparisons of five Minnow species from Thailand were presented here, i.e., Devario regina, D. laoensis, Rasbora paviana, R. aurotaenia and Esomus metalicus. The mitotic chromosomes were prepared directly from renal cells. Conventional staining and Ag-NOR banding techniques were applied to stain the chromosomes. The results revealed that all Minnow fishes studied possessed the same diploid chromosome number (2n) as 50 chromosomes. The fundamental numbers (NF) of D. laoensis, D. regina, R. paviana, R. aurotaenia and E. metalicus are 100, 100, 98, 98, and 98 respectively. Their karyotypes composing of metacentrics-submetacentrics-acrocentrics-telocentrics were as follows: 6-12-32-0 in D. regina, 6-10-34-0 in D. laoensis, 8-16-24-2 in R. paviana, 8-16-24-2 in R. aurotaenia and 8-10-30-2 in E. metalicus. The Ag-NOR banding technique provides the nucleolar organizer regions (NORs) at subtelomeric region of the short arm chromosome in the a submetacentric or acrocentric chromosomes that are located differently in the different chromosome pairs among species.

Identification of a Homozygous PEX26 Mutation in a Heimler Syndrome Patient

This study aimed to identify the molecular genetic etiology of an 8-year-old boy with amelogenesis imperfecta in permanent dentition. Bilateral cochlear implants were placed due to sensorineural hearing loss, and there was no other family member with a similar phenotype. Peripheral blood samples were collected with the understanding and written consent of the participating family members. A constitutional chromosome study was performed for the proband. Genomic DNA was isolated, and whole exome sequencing was performed. A series of bioinformatic analyses were performed with the obtained paired-end sequencing reads, and the variants were filtered and annotated with dbSNP147. There was no abnormality in the constitutional chromosome study. Whole exome sequencing analysis with trio samples identified a homozygous mutation (c.506T>C, p. (Leu169Pro)) in the PEX26 gene. We verified “temperature sensitivity (ts)” of patient-derived Pex26-L169P by expression in pex26 CHO mutant ZP167 cells to determine the effect of the L169P mutation on Pex26 function. The L169P mutation causes a mild ts-cellular phenotype representing the decreased peroxisomal import of catalase. This study supports the finding that the recessive mutations in PEX26 are associated with Heimler syndrome and demonstrates the importance of an early and correct diagnosis.