Résumé
<p><b>OBJECTIVE</b>To assess the value of suspension array technology (SAT) for the genetic diagnosis of non-syndromic hearing loss (NSHL).</p><p><b>METHODS</b>Three hundred and sixteen NSHL patients were simultaneously tested by SAT targeting 20 hotspot mutations within 4 common pathologic genes among the Chinese population as well as 9 deafness gene mutation detection kits. The results of the two approaches were validated by Sanger sequencing.</p><p><b>RESULTS</b>Among the 316 patients, 161 were found to carry a mutation by SAT. Sixty five patients have carried homozygous or compound heterozygous mutations, which yielded a mutation rate of 50.9% and a diagnostic rate of 21.2%. Seventy three patients were found to be carriers by the 9 deafness gene mutation detection kits. These included 34 patients carrying homozygous or compound heterozygous mutations, which yielded a mutation rate of 23.1% and diagnostic rate of 11.4%. Above results were consistent with those of Sanger sequencing.</p><p><b>CONCLUSION</b>SAT is a simple, rapid and accurate method featuring high detection rate for common mutations related to deafness among the Chinese population and has provided an effective means of genetic testing for hereditary deafness.</p>
Résumé
Objective To investigate the application value of fetal umbilical cord blood hemoglobin analysis in the prenatal diag ‐nosis of thalassemia .Methods 113 couples were the carriers of the same gene type of thalassemia ,moreover the females were in the pregnant period of 24 - 30 pregnant weeks and performed the prenatal diagnosis .The fetal umbilical cord blood hemoglobin compo‐nents were analyzed by the full automatic capillary electrophoresis technique ,meanwhile the fetal thalassemia gene was detected .Re‐sults Among 113 fetuses ,the umbilical cord blood HbBart′s level in 11 cases of severe α thalassemia was 85 .0% - 95 .5% ,which in 9 cases of intermediate type α thalassemia was 22 .0% - 39 .5% ;the umbilical cord blood HbA level in 6 cases of severe β thalas‐semia was 0% - 0 .4% ,which in 17 cases of light type β thalassemia was 2 .1% - 12 .5% .Conclusion The fetal umbilical cord blood hemoglobin analysis could be used for rapid prenatal diagnosis of severe α ,β and intermediate type α thalassemia ,which can serve as a supplementary method for the prenatal diagnosis of thalassemia .
Résumé
<p><b>OBJECTIVE</b>To establish an accurate, fast and simple screening method for AZF microdeletions using capillary technology and use it for clinical testing.</p><p><b>METHODS</b>For each pair of primers, the 5' end of either forward or reverse primer was labeled with a FAM, JOE or TAMRA fluorescence dyes to establish multiplex quantitative fluorescence PCR systems for the establishment of a screening method of Y chromosome AZF microdeletions by capillary technology. The detection of Y chromosome AZF microdeletion was carried out on 725 cases of non-obstructive azoospermia, oligospermia or asthenospermia.</p><p><b>RESULTS</b>A screening method for Y chromosome AZF microdeletions using capillary technology was established. Thirty eight cases of AZF microdeletions were found among 725 cases of non-obstructive azoospermia, oligospermia or asthenospermia, which gave a deletion rate of 5.24%. Y chromosomal microdeletions were found in 8.62% of the azoospermia group, 6.75% of the oligozoospermic group, and 2.23% of the asthenospermia group.</p><p><b>CONCLUSION</b>An accurate, fast and simple screening method of Y chromosome AZF microdeletions by capillary technology has been established, which may have an important clinical value.</p>