Genetic analysis of a novel mutation resulting in autosomal dominant osteopetrosis II / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze potential mutation of chloride channel 7(CLCN7) gene in a patient with autosomal dominant osteopetrosis II (ADO II).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from the patient and 100 healthy subjects. The DNA was used as template of polymerase chain reaction (PCR) to amplify the exons of CLCN7. Then the PCR products were sequenced to detect the mutation.</p><p><b>RESULTS</b>A novel heterozygous deletional mutation (c.2460delA) was detected in exon 25 of the CLCN7 gene in the patient, which has resulted in substitution of Gly residue for Arg at position 784 of the CLCN7 protein and caused frame shift of the following 28 amino acids (Arg784GlyfsX29). The same mutation was not found in the healthy subjects.</p><p><b>CONCLUSION</b>The ADO II in the patient probably results from a Arg784GlyfsX29 mutation in the CLCN7 gene.</p>