Analysis of PHEX gene mutation in a hypophosphatasia pedigree / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen potential mutations of PHEX gene in a family featuring hypophosphatemic rickets in order to confirm the molecular diagnosis and pathogenetic mechanism.</p><p><b>METHODS</b>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.</p><p><b>RESUTLS</b>A mutation was identified in intron 6 of the PHEX gene in the proband and his mother.</p><p><b>CONCLUSION</b>The c.732+1G>T mutation underlies the hypophosphatemic rickets in this family.</p>

Study on the distribution of Y chromosome haplogroups in Sichuan Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the distribution characteristics of Y chromosome haplogroups in Sichuan Han population.</p><p><b>METHODS</b>Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), denatured high performance liquid chromatography (DHPLC) and DNA sequencing methods, 18 Y-chromosome bialletic markers were detected to type Y chromosome haplogroups in 341 unselected men from Sichuan Han population.</p><p><b>RESULTS</b>A total of 14 haplogroups were observed, in which haplogroups H2 and H4 were identified for the first time in Sichuan population, and haplogroups H14 and N* were found firstly in Chinese. There was a significant frequency difference of Y haplogroups between Sichuan Han population and Southern Han population.</p><p><b>CONCLUSION</b>More comprehensive frequency distribution data of Y chromosome haplogroups are obtained in Sichuan Han population, which would be helpful for understanding the association of Y chromosome background and the susceptibility to male specific diseases such as spermatogenic failure, prostate cancer, testical cancer and so on in present population.</p>