Characteristics of the PAH gene mutation in Chinese patients with phenylketonuria in Xinjiang / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the characteristics of the PAH gene mutation in patients with phenylketonuria (PKU) in Xinjiang area.</p><p><b>METHODS</b>The mutations in exons 3, 5, 6, 7, 11 and 12 and the flanking intronic sequence of the PAH gene were detected by PCR/SSCP analysis and direct DNA sequencing in 46 PKU patients.</p><p><b>RESULTS</b>Twenty different mutations were found in 68/92 alleles (73.9%). The prevalent mutations of R243Q, EX6 96A>G, R111X, Y356X and V399V were similar to that of Northern China populations. The mutations F161S, L255S, P281L, and R413P were significantly different from that in other Chinese populations. It was the second time that E280G and A434D mutations were reported in the world, that L255S, P281L, R261Q, and I65T mutations were found in China. Thirteen different mutations were first found in Chinese Uygur, which showed a distinct ethnic characteristics.</p><p><b>CONCLUSION</b>The study showed not only a distinct and conservative, but also a crossed and syncretic genetic characteristics in Xinjiang Uygur population. The results suggest that Xinjiang could be an ideal genetic resource repertoire for studying diversity of gene mutations, heterogeneity of PAH gene, human origins and migration.</p>

Comparison of sperm parameters between male adults at different altitudes / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the influence of long-term anoxic exposure on the sperm function of male adults at different altitudes.</p><p><b>METHODS</b>A total of 28 male adults that had stayed at the altitude of 5 340 m for 1-3 years were included as a high-altitude group (HAG), 34 at the mean altitude of 3 800 m for 2-5 years as a middle-altitude group (MAG) and 31 permanently at the altitude of 1 300 m as controls. Semen specimens were collected and the real-time semen analysis was performed by using computer-assisted semen analysis (CASA) system.</p><p><b>RESULTS</b>The sperm density, VCL, VSL, VAP and LIN in the HAG were (51.12 +/- 14.61) x 10(6)/ ml, (48.17 +/- 13. 52) microm/s, (32.64 +/- 6.70) microm/s, (41.21 +/- 9.32) microm/s and 52.24 +/- 8.14, respectively, significantly lower than those of the control (P < 0.01 or P < 0.05). Compared with the control group, there was a progressive decrease in sperm concentration, sperm motility rate, VSL, VCL, LIN, VAP and ALH in the MAG.</p><p><b>CONCLUSION</b>The higher the altitude, the more obvious was the negative effect of anoxic exposure on the sperm function of male adults.</p>

Mutations in exon 7 of the PAH gene in Chinese phenylketonuria patients in Xinjiang / 中华检验医学杂志

Objective To investigate the mutation characteristics in exon 7 of the PAH gene in phenylketonuria(PKU) patients in Xinjiang.Methods The mutations in exon 7 of PAH gene were detected by PCR/SSCP in 37 PKU patients.Results Five missense mutations including R243Q,L255S,E280G, E280K and P281L were identified in 74 chromosomes from 37 PKU patients,with relative frequencies of 18.9%,4.1%,1.4%,1.4% and 1.4% respectively.The frequency of mutant alleles in exon 7 was 27%. Among the five mutations,it was the second time the E280G mutation was reported in the world.In China,it was the second time the L255S,E280K and P281 L mutations were found.P281L and R243Q mutations were first found in 2 of Chinese Uygur.Considering the previous reports and the present study,R243Q was the most prevalent form in Asian PKU populations.P281L and E280K were two common mutations in PKU patients from European countries.However,E280G and L255S were two characteristic forms in Chinese. Condusions Characteristics of PAH gene mutations are shown in Chinese PKU population from Xinjiang, which is a special distribution belt that located between China and Europe.The results give a clue that Xinjiang could probably be an ideal genetic resource repertoire for studying diversity of gene mutations, heterogeneity of PAH gene,human genesis and migration.