Nine short tandem repeat (STR) markers on the X chromosome (DXS101, DXS6789, DXS6799, DXS6804, DXS7132, DXS7133, DXS7423, DXS8378, and HPRTB) were analyzed in four population groups (Mongol, Ewenki, Oroqen, and Daur) from Inner Mongolia, China, in order to learn about the genetic diversity, forensic suitability, and possible genetic affinities of the populations. Frequency estimates, Hardy-Weinberg equilibrium, and other parameters of forensic interest were computed. The results revealed that the nine markers have a moderate degree of variability in the population groups. Most heterozygosity values for the nine loci range from 0.480 to 0.891, and there are evident differences of genetic variability among the populations. A UPGMA tree constructed on the basis of the generated data shows very low genetic distance betweent Mongol and Han (Xi'an) populations. Our results based on genetic distance analysis are consistent with the results of earlier studies based on linguistics and the immigration history and origin of these populations. The minisatellite loci on the X chromosome studied here are not only useful in showing significant genetic variation between the populations, but also are suitable for human identity testing among Inner Mongolian populations.

BACKGROUNDThe conformation of a subset of phosphorylated serines or threonines preceding proline motifs is regulated by the prolyl isomerase Pin1. Pin1 plays a critical role in oncogenesis. The aim of this study is to explore the relationship between the expression of Pin1 and clinicopathological factors in squamous cell carcinoma and adenocarcinoma of the lung, and to analyze the correlation between Pin1 and β-catenin.

METHODSThe expression of Pin1 and β-catenin proteins was detected in 69 lung cancer cases by immunohistochemical SP method, and in 30 fresh lung samples by Western blot.

RESULTSImmunohistochemically, the overexpression of Pin1 and β-catenin in lung cancer was 78.3% (54/69) and 63.8% (44/69), respectively. The expression of Pin1 and β-catenin was not related to age, sex, histological classification, differentiation, lymph node metastasis and pTNM stages. There was a positive correlation between overexpression of Pin1 and aberrant β-catenin expression (P < 0.05). Western blot results showed that the expression of Pin1 and β-catenin in lung cancer tissues was significantly higher than that of paracancerous lung tissues (P < 0.05).

CONCLUSIONSPin1 is overexpressed in squamous cell carcinoma and adenocarcinoma of the lung and may play a critical role in oncogenesis of lung cancer. Overexpression of Pin1 might contribute to the upregulation of β-catenin and it may be one of the pathways for Pin1 to work.

Objective To describe the clinical, neuroimaging and genetic profiles of amyotrophic lateral sclerosis with frontotemporal lobe degeneration ( ALS-FTLD).Methods From August 2011 to May 2015, patients with FTLD or other types of neurodegenerative dementia were physically examined in detail and electromyography was performed to those with suspected dysarthria, limb atrophy or weakness.Cognitive and behavioral screenings were performed to all ALS patients.Patients with ALS-FTLD entered further analysis of neuroimaging and genetics.Results Among the 8 patients diagnosed as ALS-FTLD, 4 patients began with personality change or amnesia, while diseases in the remaining 4 cases began with limb weakness or dysarthria.Dementia type of 7 cases was behavioral variant FTLD ( bvFTD) and 1 case was diagnosed as semantic dementia.Electromyography of all the 8 patients showed diffuse neurogenic changes.Constructional neuroimaging of 6 patients showed cerebral atrophy predominantly in frontal and temporal lobes.Fluorodeoxyglucose-positron emission tomography was conducted in 5 patients, indicating hypometabolism mainly in frontal and ( or) temporal lobes.NeuroQ analysis revealed that bilateral frontal lobes were the most hypometabolic areas for ALS-FTLD.Among 4 patients who underwent genetic screening, 1 patient was C9ORF72 mutation carrier.Conclusions bvFTD is the major type of dementia in the context of ALS.Metabolic neuroimaging could assist accurate diagnosis, and it reveals that bilateral frontal lobes are the most hypometabolic areas for ALS-FTLD.C9ORF72 gene mutation is an important pathogenic mutation for ALS-FTLD, although it is rare in Chinese population.

Objective:To explore the clinical significance of serum nuclear factor κ B, interleukin(IL)-4, IL-10, IL-12, interferon(IFN)- γ expression in subclinical hypothyroidism with gestational diabetes mellitus.Methods:Thirty pregnant women with subclinical hypothyroidism combined with gestational diabetes mellitus in Tangshan Maternal and Child Health Hospital from January 2017 to October 2018 were retrospectively analyzed as group A. Thirty three pregnant women with subclinical hypothyroidism were selected as group B, 35 pregnant women with gestational diabetes mellitus as group C and 40 healthy pregnant women as control group.ELISA was used to detect NF-κB, IL-4, IL-10, IL-12 and IFN-γ, and the results were analyzed and compared.Results:The serum levels of NF-κB were (15.91±5.68), (13.22±5.23), (12.97±5.11), (9.74±3.85) μg/L, IL-12 were (28.91±6.84), (21.64±5.72), (22.23±5.91), (13.68±3.76) ng/L, and serum IFN-γ levels were (23.74±5.55), (18.26±4.63), (17.85±4.31), (12.69±3.85) ng/L in A, B, C and the control group respectively.There were statistically significant differences in the three indicators between groups ( F=5.118, 6.821, 7.133, all P<0.05), and group A was higher than group B, C and control, the differences were statistically significant (all P<0.05); the levels of serum IL-4 in group A, B, C and control group were (8.91±3.99), (10.84±4.47), (11.27±4.62), (13.68±5.46) ng/L, respectively.The levels of serum IL-10 were (10.91±3.86), (13.05±4.58), (12.83±4.69), (15.82±5.33) ng/L, respectively.The differences of serum IL-4 and IL-10 between groups were statistically significant ( F=5.075, 5.616, all P<0.05), and serum IL-4 and IL-10 in group A were lower than those in group B, group C and control group.The levels of serum IL-4 and IL-10 in group B and C were lower than those in control group (all P<0.05). Conclusion:The activation of NF-kB signaling pathway and its related cytokines may be the influencing factors for the development of subclinical hypothyroidism with gestational diabetes mellitus.

OBJECTIVETo identify potential mutations of retinoschisis 1 (RS1) gene responsible for X-linked retinoschisis (XLRS) in two Chinese families.

METHODSThe 6 exons and flanking intronic regions were analyzed with PCR and direct sequencing.

RESULTSTwo RS1 mutations were identified in the two families, which included 1 frameshift mutation (c.573delG, p.Pro192fs) and 1 missense mutation (c.626G>A, p.Arg209His).

CONCLUSIONTwo RS1 mutations have been identified, among which Pro192fs mutation is discovered for the first time in Chinese population. Above results may enrich our understanding of the clinical manifestations of XLRS and facilitated early diagnosis and genetic counseling for the disease.

Adolescent ; Adult ; Eye Proteins ; genetics ; Female ; Genetic Diseases, X-Linked ; diagnosis ; genetics ; Humans ; Male ; Middle Aged ; Mutation ; Prenatal Diagnosis ; Retinoschisis ; diagnosis ; genetics

OBJECTIVETo investigate the efficiency of multiplex ligation-dependent probe amplification (MLPA) combined with short tandem repeat (STR) linkage analysis for the prenatal diagnosis for Duchenne muscular dystrophy (DMD).

METHODSGender of the fetus was first determined by the presence of Y chromosome sex-determining gene (SRY). Subsequently, combined MLPA and STR linkage analysis were applied for the probands, pregnant women and fetuses in 45 affected families.

RESULTSAmong the 45 families, 31 SRY-positive fetuses were identified, among whom six were diagnosed with DMD. For 14 SRY-negative fetuses, four were diagnosed as carriers. The remainders were normal.

CONCLUSIONMLPA can detect mutations in the exons of dystrophin gene, whilst STR linkage analysis can determine whether the fetus has inherited the maternal X chromosome bearing the mutant gene. As the result, the method can detect affected fetuses in which no exonic mutations are detected with MLPA. By combining the two methods, the diagnostic rate for DMD can be greatly improved.

Dystrophin ; genetics ; Exons ; Female ; Genetic Linkage ; Heterozygote ; Humans ; Male ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophy, Duchenne ; diagnosis ; genetics ; Mutation ; Pregnancy ; Prenatal Diagnosis

OBJECTIVETo investigate the genetic structure of X chromosome in Mongolia, Ewenki, Elunchun and Dawoer in Inner Mongolia.

METHODSNine short tandem repeat (STR) markers on the X chromosome (DXS6789, DXS101, DXS8378, DXS7132, DXS7133, DXS7423, DXS6804, DXS6799 and HPRTB) were analyzed in the four populations from Inner Mongolian (Mongol, Ewenki,Oroqen and Daur) for their genetic diversity, forensic suitability and possible genetic affinities of the populations. Frequencies and other parameters of forensic interest were computed.

RESULTSThe results revealed that the nine markers described here have a moderate degree of variability in the population groups. And there are significant differences in the genetic variability among the populations. Genetic distance and cluster analyses show very low genetic distance between Mongol and Han (Xi'an) communities. The results based on genetic distance analyses are consistent with earlier studies based on linguistic as well as immigration history and origin of these populations.

CONCLUSIONThe nine STR loci studied here were found not only useful in studying genetic variations between populations but also suitable for human identity testing.

China ; ethnology ; Chromosomes, Human, X ; genetics ; Cluster Analysis ; Ethnic Groups ; genetics ; Female ; Genetic Variation ; Humans ; Male ; Microsatellite Repeats ; genetics

OBJECTIVE: To determine the genetic diversity of X-TR loci, and to evaluate the genetic structure X chromosome's of Ewenki nationality and its affinity with other nationalities. METHODS: We chose 9 X-TR (DXS6804, DXS7133, DXS101, DXS6789, DXS6799, DXS7423, HPRTB, DXS8378, DXS7132) as genetic markers from 99 irrelative individules to determine the genetic diversity of Ewenki in Inner Mongolian. Cluster analysis and phylogenic trees was applied to show the genetic distance among the nationalities. RESULTS: We got 51 alleles in the studied population, with the frequency diverse between 0.0109 and 0.6863. Genotype frequency was from 0.0217 to 0.3778. Heterozygosity(H),the power of discrimination(PD) and the polymorphism information conten (PIC) were consistent with the forensic application. Cluster analysis and phylogenic trees revealed that Ewenki nationality had estrangement genetic affinity with the other 3 major nationalities in inner mongolia and Han nationality in Xi'an. CONCLUSION The genetic information demonstrates that the 9 chosen gene makers were highly informative loci and are suitable for population genetics research and forensic application.
China ; Chromosomes, Human, X ; genetics ; Cluster Analysis ; Ethnic Groups ; classification ; genetics ; Female ; Gene Frequency ; Genetic Markers ; genetics ; Genetic Variation ; Genotype ; Humans ; Male ; Microsatellite Repeats ; genetics ; Phylogeny ; Polymorphism, Genetic

Objective To investigate of drug resistant mutants tend to be induced in the HBV infected patients treated by lamivudine in this paper, which contributes a new way to direct clinical drug administration. Methods 255 clinical samples from 51 patients treated with lamivudine and 145 sera from HBV DNA negative controls were assayed for HBV mutations utilizing gene chip and the mutations were analysed. Results 10 patients drug resistant mutants were detectd in all 51 patients HBV infected treated by lamivudine, and drug fast rate is19.6% ( 10/51 ), and its virus loading ＞ 105 copes/ml. 4 patients HBeAg were changed negative in the HBV infected patients treated by lamivudine. 10 HBV DNA polymerase mutation was detected, Its 9 mutantion in codon 552 ( YMDD convsev district), 3 mutantion in codon 528and none mutantion in codon 555. There are 4 eligible to detecting wild type HBV and HBV mutants in 5patient's sera and the lower 40% relative proportion of wild type HBV. Two mutantion type virus were detected the (4,4) codon ATT and (3,3) codon TTG in one patient's sera, and its emerged and increased synchronization. Previously unreported (3,3) mutants were found in those samples. Conclusion Upper six months were easily formed drug resistant mutants tend to be induced in the HBV infected patients treated by lamivudine, and its virus loading ＞105 copes/ml. The wild type HBV and HBV mutants mixed viruses infection of YMDD convsev district in patient's sera. The above studies has great potential application of administration for lamivudine treatment in HBV patients.

OBJECTIVETo analyze CYP17A1 gene mutations in a child patient with 17 alpha-hydroxylase/17, 20-lyase deficiency (17OHD), and to review characteristics of CYP17A1 gene mutations in Chinese patients with 17OHD.

METHODSClinical data were collected. PCR and DNA sequencing were performed to detect mutations in the patient.

RESULTSThe patient has presented classical features of 17OHD including hypertension, hypokalemia, decreased sex hormones and plasma cortisol, and elevated blood adrenocorticotrophic hormone. A compound heterozygous mutation c.987C>A and c.985del was detected in the CYP17A1 gene, which resulted in two premature stop codons at positions 328 and 417.

CONCLUSIONA compound mutation, c.987C>A and c.985del, has been identified in a patient with 17OHD. Among CYP17A1 gene mutations identified in Chinese patients, missence mutations have been most common, and exons 5 and 8 have been the mutation hotspots.

Adolescent ; Adrenal Hyperplasia, Congenital ; enzymology ; genetics ; Base Sequence ; Female ; Humans ; Lyases ; deficiency ; genetics ; Molecular Sequence Data ; Mutation ; Steroid 17-alpha-Hydroxylase ; genetics