Tri-primer-florescence PCR-Sanger sequencing method for screening of full and pre-mutations of FMR1 gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen for CGG repeats in the FMR1 gene among patients with fragile X syndrome and carriers of pre-mutations.</p><p><b>METHODS</b>Potential full and pre-mutations of the FMR1 gene were detected with a Tri-primer-florescence PCR-Sanger sequencing method. The results were validated with positive and negative controls.</p><p><b>RESULTS</b>All positive and negative controls were confirmed. A male patient was found to have > 200 CGG repeats (full mutation). For a pregnant women who was heterozygous for 35/115 CGG repeats, > 200 CGG repeats were also found with amniotic fluid sample from her fetus who was a male. The result was confirmed by following selective abortion with informed consent.</p><p><b>CONCLUSION</b>Tri-primer-florescence PCR-Sanger sequencing is a simple, effective and reliable method for routine screening of patients/carriers with full/pre-mutations of the FMR1 gene in the population.</p>

Sequence polymorphisms of the mitochondrial DNA HVR I and HVR II regions in the Deng populations from Tibet in China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the sequence polymorphisms of the mitochondrial DNA hypervariable regions I (HVR I) and HVR II in the Deng population in Linzhi area of Tibet.</p><p><b>METHODS</b>mtDNAs obtained from 119 unrelated individuals were amplified and directly sequenced.</p><p><b>RESULTS</b>One hundred and ten variable sites were identified, including nucleotide transitions, transversions, and insertions. In the HVR I region (nt16024-nt16365), 68 polymorphic sites and 119 haplotypes were observed, the genetic diversity was 0.9916. In the HVR II (nt73-nt340) region, 42 polymorphic sites and 113 haplotypes were observed, and the genetic diversity was 0.9907. The random match probability of the HVR I and HVR II regions were 0.0084 and 0.0093, respectively. When combining the HVR I and HVR II regions, 119 different haplotypes were found. The combined match probability of two unrelated persons having the same sequence was 0.0084.</p><p><b>CONCLUSION</b>There are some unique polymorphic loci in the Deng population. There are different genetic structures between Chinese and other Asian populations in the mitochondrial DNA D-loop region. Sequence polymorphism of mitochondrial DNA HVR I and HVR II can be used as a genetic marker for forensic individual identification and genetic analysis.</p>

Polymorphisms of mitochondrial DNA hypervariable regions HVR I and HVR II in Changdu Tibetan in China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the sequence polymorphisms of mitochondrial DNA HVR I and HVR II in Tibetan population in Changdu area of Tibet.</p><p><b>METHODS</b>mtDNAs obtained from 97 unrelated individuals were amplified and directly sequenced.</p><p><b>RESULTS</b>One hundred and eleven variable sites were identified, including nucleotide transitions, transversions, insertions and deletions. In HVR I region (nt16024-nt16365), sixty-eight polymorphic sites and 92 haplotypes were observed, and the genetic diversity was 0.9985. In HVR II region (nt73-nt340), forty-three polymorphic sites and 91 haplotypes were detected, and the genetic diversity was 0.9882. The random match probability of HVR I and HVR II regions were 0.0120 and 0.0118, respectively. When the sequence analysis of HVR I and HVR II regions were combined, ninety-seven different haplotypes were found. The combined match probability of two unrelated persons having the same sequence was 0.0103.</p><p><b>CONCLUSION</b>There are some unique polymorphic loci in the Changdu Tibetan population. The results suggest that there are significant difference in the genetic structure in the mitochondrial DNA D-loop region between Changdu Tibetans and other Asian populations and Caucasians. Sequence polymorphism in mitochondrial DNA HVR I and HVR II can be used as a genetic marker for forensic individual identification and genetic analysis.</p>

Determination of HLA-A, -B allele polymorphism in the Luoba nationality living in Tibet Autonomous Region in China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the HLA-A, -B allele polymorphism in the Luoba ethnic population.</p><p><b>METHODS</b>HLA-A, -B DNA types in 92 healthy individuals of Luoba nationality in the Linzhi area, Tibet Autonomous Region, were investigated by polymerase chain reaction-sequence specific oligo-nucleotide (PCR-SSO).</p><p><b>RESULTS</b>Ten alleles at HLA-A locus, and 19 alleles at HLA-B locus in Luoba ethnic group were detected. Of the 10 HLA-A alleles detected, the three most common alleles were HLA-A*11(allele frequency: 36.40%), -A*02 (25.50%), -A*24 (23.90%), and they covered 85.80% of the total HLA-A alleles detected from the Luoba ethnic group. Of the 19 HLA-B alleles detected, the three most common alleles were HLA-B*40 (27.20%), -B*15 (11.40%) and -B*38(10.90%), and they covered 49.50% of the total -B alleles detected in the Luoba ethnic group.</p><p><b>CONCLUSION</b>The distribution of HLA-A, -B allele polymorphism in the Luoba nationality is distinctive, but some of the gene distribution in the Luoba group is nearer to that in the Tibetan group. These are consistent with the results of ethnological, historical and sociological researches.</p>

PREVENTIVE EFFECT OF BORON ON DAMAGE TO CARTILAGE OF RATS WITH INTAKE EXCESSIVE FLUORIDE / 药物分析学报

Objective To investigate and analyze the preventive effect of boron on the cartilage damage in rats with intake excessive fluoride. Methods Fifty-ix Sprague-Dawley rats were divided into the control group (C, intake distilled water), the excessive fluoride dose group (EF, intake distilled water with 100 ppm F-) and the boron prevention group (P, intake distilled water with 100 ppm F- as well as the supplemental boron dietary). 3 to 5 months later, fluorine contents in serum, RNA contents in costal cartilage were assayed. The morphological changes in tibia growth plate cartilage (GPC) in rats were observed. Results Although exposed to the same dose of fluoride, the fluorine contents in serum in rats of P group decreased notably compared with those of EF group, the damage of tibia GPC under optical and electron microscope lessened significantly, and RNA contents in costal cartilage increased obviously in the 3rd month. Conclusion Boron added could decrease the fluorine level in the body and relieve the toxic symptom of excess fluoride, and thus boron has a preventive effect on skeletal fluorosis.

Study of polymorphism on 15 STR loci of Luoba ethnic group from Tibet / 西安交通大学学报(医学版)

Objective To select 15 short tandem repeat(STR) loci that are highly and steadily polymorphic,and study the genetic relationships between Luoba ethnic group,Tibetan living in Lassa and Changdu area,and other Asian populations by using 15 STR polymorphism.Methods The blood samples of unrelated individuals from Luoba ethnic group,Lassa Tibetan and Changdu Tibetan were collected.DNA templates were screened using AmpF/ STR Identifiler kit and ABI3100Avant DNA analyzer with Genescan and Genotype software.The STR data of Luoba,Lassa Tibetan,Changdu Tibetan,other 21 Chinese ethnic groups and six Asian populations were compared;phylogenesis tree was constructed;the genetic relationships among ethnic groups living in Tibet and other Asian populations were analysed.Results Eight Hans clustered,and five ethnic groups of Guangxi clustered firstly;then the two clustered with Luoba,and two groups of Tibetan secondly;and then clustered with other Chinese populations,and then the Chinese groups clustered with other six Asian populations and Chinese Uygur lastly.Conclusion The results of this study are basically consistent with geographic distribution,and histories of these ethnic groups.They can provide the genetic proofs for the origin,migration,formation and development of ethnic groups living in Tibet.