ABSTRACT
The complete mitochondrial genome of Common Cuckoo (Cuculus canorus bakeri) is determined in this study and was deposited in Genbank with accession number MN067867. The length of the mitogenome is 17,457 base pairs (bp) including 13 protein-coding genes (PCGs), 22 transfer (t RNA) RNA genes, two ribosomal RNA (r RNA) genes, one control region (CR) and one short pseudo-control region. The structure is similar to mitochondrial genome of other Cuculiforme species. Phylogenetic tree shows that C. canorus bakeri is closely related to C. poliocephalus. The study has provided useful information for further studies on the evolution, genetic diversity, and phylogenetic relationships in Common Cuckoo.
ABSTRACT
OBJECTIVE: To screen potential mutations of PHEX gene in a family featuring hypophosphatemic rickets in order to confirm the molecular diagnosis and pathogenetic mechanism. METHODS: Genomic DNA was extracted from peripheral venous blood samples. DNA sequence of PHEX gene was derived from UCSC database, and primers for its coding region were designed with Primer premier 5.0. Potential mutations were detected with PCR amplification and DNA sequence analysis. RESUTLS: A mutation was identified in intron 6 of the PHEX gene in the proband and his mother. CONCLUSION: The c.732+1G>T mutation underlies the hypophosphatemic rickets in this family.