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Objective:To investigate the effect of chemotherapy combined with sorafenib on the prognosis of FLT3 internal tandem duplication (FLT3-ITD)-positive acute myeloid leukemia and to find a more effective treatment.Methods:The clinical data of 60 patients who were newly diagnosed with acute myeloid leukemia and who received treatment in The Second Affiliated Hospital of Qiqihar Medical University from January 2015 to January 2017 were retrospectively analyzed. The patients were divided into three groups according to whether they were positive for FLT3-ITD and the treatment method they used. The observation group (FLT3-ITD-positive, n = 19) were treated with sorafenib based on routine chemotherapy. The control group 1 (FLT3-ITD-positive, n = 21) was treated only with routine chemotherapy. The control group 2 (FLT3-ITD-negative, n = 20) was treated only with routine chemotherapy. After the first and fourth courses of treatment, clinical efficacy was compared among the three groups. Results:After the first course of treatment, the complete remission rate in control group 2 was 50.0% (10/20), which was significantly higher than 15.8% (3/19) in the observation group and 4.8% (1/21) in the control group 1 ( H = 13.39, P < 0.05). After the fourth course of treatment, the complete remission rate in the observation group, control group 2, and control group 1 was 63.2% (12/19), 60.0% (12/20), and 4.8% (1/21), respectively, and the differences were statistically significant ( H = 19.21, P < 0.05). Four-year follow-up results showed that the median survival time in the observation group, control group 1, and control group 2 was 36.63, 24.15, and 45.00 months respectively. The event-free survival in the observation group, control group 1, and control group 2 was 18.00, 9.82, and 24.90 months, respectively. The median survival time and the event-free survival in the control group 2 were significantly longer than those in the observation group and control group 1 ( χ2 = 19.93, 23.04, both P < 0.001). Conclusion:Chemotherapy combined with sorafenib for treating newly-diagnosed FLT3-ITD-positive acute myeloid leukemia can provide comprehensive benefits and have advantages for survival over chemotherapy without sorafenib and chemotherapy alone.
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To explore the immunomodulatory effect of adriamycin on 4T1 breast cancer. We used a tandem mass tag-based quantitative proteomic method to detect differential proteins in breast cancer tissues, and multiple bioinformatics databases to analyze the differentially expressed proteins in the proteome. Also, we used enzyme-linked immunosorbent assay to detect the effects of adriamycin on helper T cells 1 and 2 in breast cancer tissues, and flow cytometry to detect CD4+ T cells, CD8+ T cells and regulatory T cells. We discovered the immunomodulatory targets of adriamycin in differential proteins. In total 170 differential proteins were significantly up-regulated, whereas 58 were markedly down-regulated. In addition, 73 proteins were involved in immune regulation. Kyoto encyclopedia of genes and genomes enriched important protein pathways related to cytokines and factor receptors, interleukin 17 pathway and cancer transcriptional regulatory pathways. These pathways and important differential proteins related to immunomodulatory functions were ultimately regulated by adriamycin on CD4+ T cells, CD8+ T cells and regulatory T cells, thereby affecting the prognosis of breast cancer. Moreover, adriamycin significantly increased interleukin 2, CD4+ T and CD8+ T (P<0.01) and markedly reduced regulatory T cells (P<0.05). The function of adriamycin against triple-negative breast cancer was closely related to the immunoregulation process of the differential proteins Ighm, Igkc, S100A8, S100A9 and Tmsb4x. Adriamycin could regulate the content of helper T cells 1 cytokines, CD4+ T and CD8+ T lymphocytes in breast cancer and reduce the number of regulatory T cells to produce immunomodulatory effects.
Subject(s)
Animals , Female , Humans , Mice , Breast Neoplasms/drug therapy , CD4-Positive T-Lymphocytes , CD8-Positive T-Lymphocytes , Disease Models, Animal , Doxorubicin/pharmacology , ProteomicsABSTRACT
En la mayoría de los casos, la diferenciación sexual masculina ocurre con la participación del gen SRY. Sin embargo, se pueden presentar otros genotipos excepcionales, como en el caso que se presenta en este reporte. Se trata de un paciente adulto de sexo masculino atendido en el Servicio de Paternidades del Instituto de Genética de la Universidad Nacional de Colombia. Se le hicieron los análisis del gen de la amelogenina y de repeticiones cortas en tándem (Short Tandem Repeat, STR) específicas para el gen SRY con estuches comerciales de identificación humana, así como los de cariotipo convencional e hibridación in situ fluorescente del SRY, y el estudio de microdeleciones del cromosoma Y mediante reacción en cadena de la polimerasa (PCR). Se le hizo la evaluación clínica y se le brindó asesoramiento genético. El paciente no presentaba ambigüedad genital, su cariotipo era 46 XX, y el perfil molecular era negativo para el gen SRY y positivo para el ZFY. Se le diagnosticó un trastorno de diferenciación sexual 46 XX testicular no sindrómico, una rara condición genética. Solo el 20 % de los pacientes con este diagnóstico son negativos para SRY y exhiben perfiles moleculares diversos. La información disponible parece indicar que el ZFY está relacionado con la diferenciación sexual masculina, aún en ausencia del gen SRY.
In most cases, male sexual differentiation occurs with SRY gene mediation. However, exceptional genotypes have been identified, as shown in this paper. This was a male adult patient seen at the Servicio de Paternidades, Instituto de Genética, Universidad Nacional de Colombia. The following procedures were carried out: Amelogenin gene and short tandem repeat analyses using human identification commercial kits, conventional karyotype, SRY fluorescent in situ hybridization, PCR analysis for Y chromosome microdeletions, clinical evaluation, and genetic counseling. We present an adult male with unambiguous genitalia, karyotype 46,XX, and an SRY negative and ZFY positive molecular profile. The diagnosis of nonsyndromic 46,XX testicular disorder of sex development (DSD) -a rare genetic condition- was established. Only 20 % of similarly diagnosed patients are SRY negative and exhibit diverse molecular profiles. Until now, available evidence seems to indicate that, even in the absence of SRY, the ZFY factor is involved in male sexual differentiation.
Subject(s)
Disorders of Sex Development , 46, XX Testicular Disorders of Sex Development , Sex Differentiation , Tandem Repeat Sequences , Genes, sry , AmelogeninABSTRACT
OBJECTIVES@#To investigate the genetic polymorphisms of 27 Y-STR in Dongxiang population of Gansu province, and to explore the population genetic relationship and the value of forensic application.@*METHODS@#The genotyping of 27 Y-STR loci in 526 unrelated male individuals in Dongxiang population of Gansu province were detected by STRtyper-27Y kit. The allele frequencies and haplotype diversity were also calculated. Combining with other genetics data of 14 loci in same populations, which have been published at home and abroad, the genetic distance and clustering relationship in Dongxiang population of Gansu province were calculated.@*RESULTS@#Totally 55 haplotypes were found in the DYS385a/b biallelic loci, 39 haplotypes in DYF387S1 loci, and 4-16 alleles in the rest 23 single copy STR loci. The GD value was from 0.453 9 （DYS391） to 0.957 5 （DYS385a/b）. Totally 471 haplotypes were observed in 27 Y-STR loci in 526 individuals, and the value of haplotypes diversity was 0.999 5. The genetic distance between Dongxiang and Tibetan populations of Gansu province was the closest （0.068 2）, while it was the longest between Dongxiang population in Gansu province and Han population in Henan province （0.084 7）. The result of dimensional analysis established upon the genetic distance was basically matched with that of the cluster analysis.@*CONCLUSIONS@#The 27 Y-STR loci show a high genetic polymorphism in Dongxiang population of Gansu province, which has significance for the Y-STR database establishment, population genetics study and forensic practice.
Subject(s)
Humans , Male , Alleles , Asian People/genetics , China , Chromosomes, Human, Y , Gene Frequency , Genetics, Population , Haplotypes , Microsatellite Repeats , Polymorphism, Genetic/genetics , Population GroupsABSTRACT
Objective@#To investigate the value of short tandem repeat (STR) genotyping in the diagnostic workup of molar and non-molar gestations with correlation of histological characteristics.@*Methods@#Six hundred and fifty-six cases were selected based on clinically suspected hydropic abortion and/or molar pregnancy from July 2015 to September 2017 at Beijing Obstetrics and Gynecology Hospital. DNA was extracted from dissected chorionic villi and paired maternal endometrial FFPE tissue samples by Simplex OUP™ FFPE DNA Tissue Kit. STR genotyping was performed by PowerPlex 16 HS system.@*Results@#DNA genotyping was informative in 649 of 656 cases, leading to identification of 215 hydatidiform mole gestations and 434 non-molar gestations. Most of non-molar gestations (375 cases, 86.4%) were diploid hydropic abortion. Various trisomy syndromes were found (53 cases, 12.2%), including trisomy 2, 3, 4, 7, 8, 13, 16 and 21. Only 2(0.5%) digynic triploid gestations were detected. Moreover, 4 cases (0.9%) of uniparental disomies (homologous or heterologous) were found. There were 196 cases with histologic diagnostic suspicious of hydatidiform moles were accurate sub-classified. Among them, 59 cases hydatidiform moles were under-diagnosed as diploid hydropic abortions, and 28 cases diploid hydropic abortions were over-diagnosed as hydatidiform moles.Compared with partial moles(PHM), there were no specific histomorphological features between the various types of non-molar gestations and partial moles for definitive diagnostic separation. There was no significant difference in the expression of p57kip2 among PHM, trisomy and diploid hydropic abortions group (P=0.247).@*Conclusions@#STR genotyping can distinguish non-molar gestations from early hydatidiform moles, and efficiently avoid misdiagnosis based only on histological evaluation. Therefore, using STR genotyping, not only can the overdiagnosis of non-molar pregnancy be avoided, but also individualized management can be offered to patients including monitoring of serum hCG.
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Objective To introduce real-time polymerase chain reaction (real-time PCR) into the initial sample screening, to improve the effectiveness of traditional trace sample extraction method.Methods Serial diluted 9947A was quantified using a Rotor-Gene Q real-time RT-PCR, and the genotype was determined with AmpF?STRTMIdentifilerTMPlus PCR kit.Thus a quantitative threshold model was built to obtain complete STR typing from the trace samples.In addition, 903 trace samples were used to verify the reliability.Results When the samples quality concentration was＞0.03 ng/μL, the effective STR typing could be directly obtained;when the concentration was＞0.01 and≤0.03 ng/μL, the effective STR typing could be directly obtained by optimizing the PCR thermal cycle parameters (30 cycles);and when the concentration was≤0.01 ng/μL, no effective map could be obtained even if PCR was optimized.Conclusion The real-time PCR quantitative threshold model is effective for the screening of trace samples.
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OBJECTIVES@#To investigate the genetic polymorphisms of 21 short tandem repeat （STR） loci （D3S1358, D13S317, D7S820, D16S539, Penta E, D2S441, TPOX, TH01, D2S1338, CSF1PO, Penta D, D10S1248, D19S433, vWA, D21S11, D18S51, D6S1043, D8S1179, D5S818, D12S391 and FGA）.@*METHODS@#A total of 560 blood samples were collected from unrelated healthy individuals of Han population in Hunan Province. Chelex-100 extraction method was applied to the extraction of genomic DNA, and an AGCU EX22 Kit and 9700 STR amplification was used in amplification reactions. The products were separated and analyzed on 310 Genetic Analyzer.@*RESULTS@#A total of 248 alleles were observed, the allelic frequencies ranging from 0.001 to 0.518. Observation of genotype distributions for each locus showed no deviations from Hardy-Weinberg equilibrium except Penta E （P=0.023）. The combined power of discrimination, combined power of exclusion, and combined matching probability of the 21 STR loci were approximately 0.999 999 999 999 999 999 999 999 8, 0.999 999 998, and 1.36×10⁻²⁵, respectively.@*CONCLUSIONS@#The 21 STR loci show high polymorphisms in the Han population, which can provide valuable data and a theoretical basis for forensic individual identification and paternity testing.
Subject(s)
Humans , Alleles , Asian People/genetics , China , DNA Fingerprinting , Gene Frequency , Genetic Testing , Genetics, Population , Genotype , Microsatellite Repeats , Polymerase Chain Reaction , Polymorphism, Genetic , ProbabilityABSTRACT
OBJECTIVES@#To investigate the genetic polymorphism of DYS391 and other 23 Y-STR loci and to explore its application value in forensic science.@*METHODS@#Y-STRs loci of 580 unrelated Han males in Nanjing were amplified using AGCU Y-PLUS PCR （24） kit. The genetic parameters of 24 Y-STR loci such as gene frequency were calculated by software, and compared with the data of Hubei, Liao- ning, Guangdong, Beijing and Chengdu Han population.@*RESULTS@#Total 580 haplotypes were detected among 24 Y-STR loci in 580 unrelated Han males in Nanjing. The genetic diversity （GD） of each locus was from 0.294 6 to 0.939 8, and the haplotypes diversity （HD） was 0.983 7. There was a significant difference between the GD of 6 areas.@*CONCLUSIONS@#The 24 Y-STR loci such as DYS391 in Nanjing Han population have an application value in forensic science. They can also be used for cases testing and pedigree investigation.
Subject(s)
Humans , Male , Asian People/genetics , Beijing , China , Chromosomes, Human, Y/genetics , Forensic Sciences , Gene Frequency , Haplotypes , Pedigree , Polymerase Chain Reaction , Polymorphism, Genetic , SoftwareABSTRACT
OBJECTIVES@#To investigate the population genetic polymorphisms of 24 Y-STR loci in unrelated individuals in Eastern Chinese Han population, and to compare the difference of Han group between Eastern China and Guangdong.@*METHODS@#The population genetics of 24 Y-STR loci in 268 unrelated Han individuals from Eastern China were analyzed by GFS 24 Y-STR amplification kit. The allele frequencies in Eastern Chinese Han population were compared with the data in Guangdong Han population, and the difference analysis between two groups was performed.@*RESULTS@#Among the 24 Y-STR loci of 268 unrelated Han individuals from Eastern China, 235 alleles and 267 haplotypes were observed. GD value ranged from 0.564 9 to 0.966 8. The difference between 12 loci （DYS622, DYS552, DYS443, et al.） of Han population in Eastern China and in Guangdong was statistically significance.@*CONCLUSIONS@#GFS 24Y STR amplification system shows favorable polymorphisms, which can be used in patrilineal genetic relationship identification.
Subject(s)
Humans , Alleles , Asian People/genetics , China , Chromosomes, Human, Y/genetics , Gene Frequency , Genetics, Population , Haplotypes , Microsatellite Repeats/genetics , Polymorphism, Genetic , Population GroupsABSTRACT
OBJECTIVES@#To establish a novel multiplex amplification system which comprises 24 Y-STR loci.@*METHODS@#otal 24 Y-STR gene loci, concluding DYS531, DYS630, DYS622, DYS552, DYS510, DYS449, DYS459a/b, DYS446, DYS443, DYS635, DYS587, DYS527a/b, DYS460, Y-GATA-A10, DYS520, DYS557, DYS522, DYS481, DYS570, DYS385a/b, DYS444, were chosen for establishing the fluorescence multiplex amplification system. The specificity, identity, sensitivity, balance of the amplification, anti-interference and accuracy of the system were detected and the gene diversity was investigated in the population of Guangdong.@*RESULTS@#No band was found in nonhuman and female samples that were tested by the established multiplex amplification system. The same genotyping results were obtained from different tissues of the same person. Complete profiles could be obtained from more than 0.1 ng of the standard sample 9948. The loss of alleles was found when the common inhibitors such as hemoglobin and calcium ion were added 120-200 μmol/L and 1.5-2.0 mmol/L respectively to the system which with a strong anti-interference to the indigo, humic acid and EDTA. The typing of 24 Y-STR system could give the reliable results when 146 unrelated male individuals were detected and compared with the Yfiler system parallelly. The haplotype diversity （HD） of the population in Guangdong reached 0.999 72 that was better than the result retained from Yfiler system, which the HD was 0.998 58.@*CONCLUSIONS@#The fluorescence amplification system with 24 Y-STR loci established in present study has a wildly application prospect and can be used for cases inspection, paternity tests and Y-STR database construction.
Subject(s)
Female , Humans , Male , Alleles , Asian People/genetics , China , Chromosomes, Human, Y/genetics , Fluorescence , Genetics, Population , Genotype , Haplotypes/genetics , Multiplex Polymerase Chain Reaction , Polymerase Chain Reaction , Polymorphism, Genetic , SoftwareABSTRACT
Objective To screen and confirm cell fusion by DNA technology of parentage identification based on detecting of short tandem repeats.Methods With 20％ polyethylene glycol (PEG)-6000,human myeloma cell lines and health individual peripheral blood mononuclear cell were fused.Then selected by hypoxantin,aminopterin,thymidin (HAT) medium,and fusion cell were sub-cloned.Morphology of fusion cells was checked by regular microscope.Concentration of DNA was compared to parental cells.Allele genes,identified by short tandem repeats,of fusion cell line were sequenced and compared with each other.Results The fused cells from myeloma cell line and peripheral blood mononuclear cell (PBMC) were slightly larger than primary cells,and the proliferation cycle was not changed significantly.DNA concentration of the fused cell DNA was increased by two times.Sequences of short tandem repeats (STR) showed that the fused cell included all original genetic materials of parent cells.Conclusions DNA technology of parentage identification is a convenient and reliable method to screen and confirm fused cell.
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ObjectiveTo investigate the genetic polymorphisms of 21 short tandem repeat(STR)loci (D3S1358, D13S317, D7S820, D16S539, Penta E, D2S441, TPOX, TH01, D2S1338, CSF1PO, Penta D, D10S1248, D19S433, vWA, D21S11, D18S51, D6S1043, D8S1179, D5S818, D12S391 and FGA). Methods A total of 560 blood samples were collected from unrelated healthy individuals of Han population in Hunan Province. Chelex-100 extraction method was applied to the extraction of genomic DNA, and an AGCU EX22 Kit and 9700 STR amplification was used in amplification reactions. The products were separated and analyzed on 310 Genetic Analyzer.ResultsA total of 248 alleles were observed, the al-lelic frequencies ranging from 0.001 to 0.518. Observation of genotype distributions for each locus showed no deviations from Hardy-Weinberg equilibrium exceptPentaE(P=0.023). The combined pow-er of discrimination, combined power of exclusion, and combined matching probability of the 21 STR loci were approximately 0.999 999 999 999 999 999 999 999 8, 0.999 999 998, and 1.36×10-25, respectively. ConclusionThe 21 STR loci show high polymorphisms in the Han population, which can provide valu-able data and a theoretical basis for forensic individual identification and paternity testing.
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Objective To determine the genetic polymorphism of 24 Y-STR loci haplotype and investigate its application value in legal physical evidence.Methods AGCU Y24 kit and 3130xl Genetic Analyzer were used to detect the distribution of 24 Y-STR loci including DYS391,DYS389Ⅰ,DYS439,DYS389Ⅱ, DYS438, DYS643, DYS456, DYS458, DYS437, DYS635, DYS448, DYS527a/b, Y-GATA-H4, DYS447, DYS19,DYS392,DYS522,DYS393,DYS388,DYS390,DYS385a/b and DYS444in 154 unrelated individuals of Dongxiang ethnic minority males in Gansu province of China.Results A total number of 153 haplo-types were detected in 154 samples, the haplotype diversity was 0.9915 and the discrimination power was 0.9940.Conclusion The 24 Y-STR loci system has high haplotype diversity and discrimination power.
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Objective To establish a novel multiplex amplification system which comprises 24 Y-STR loci.Methods Total 24 Y-STR gene loci, concluding DYS531,DYS630,DYS622,DYS552,DYS510, DYS449, DYS459a/b, DYS446, DYS443, DYS635, DYS587, DYS527a/b, DYS460, Y-GATA-A10, DYS520, DYS557,DYS522,DYS481,DYS570,DYS385a/b,DYS444, were chosen for establishing the fluorescence multiplex amplification system. The specificity, identity, sensitivity, balance of the amplification, anti-in-terference and accuracy of the system were detected and the gene diversity was investigated in the popu-lation of Guangdong.Results No band was found in nonhuman and female samples that were tested by the established multiplex amplification system. The same genotyping results were obtained from different tissues of the same person. Complete profiles could be obtained from more than 0.1 ng of the standard sample 9948. The loss of alleles was found when the common inhibitors such as hemoglobin and calci-um ion were added 120-200μmol/L and 1.5-2.0 mmol/L respectively to the system which with a strong anti-interference to the indigo, humic acid and EDTA. The typing of 24 Y-STR system could give the reliable results when 146 unrelated male individuals were detected and compared with the Yfiler system parallelly. The haplotype diversity(HD)of the population in Guangdong reached 0.99972 that was better than the result retained from Yfiler system, which the HD was 0.99858.Conclusion The fluorescence amplification system with 24 Y-STR loci established in present study has a wildly application prospect and can be used for cases inspection, paternity tests and Y-STR database construction.
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Objective To investigate the population genetic polymorphisms of 24 Y-STR loci in unrelat-ed individuals in Eastern Chinese Han population, and to compare the difference of Han group between Eastern China and Guangdong.Methods The population genetics of 24 Y-STR loci in 268 unrelated Han individuals from Eastern China were analyzed by GFS 24 Y-STR amplification kit. The allele fre-quencies in Eastern Chinese Han population were compared with the data in Guangdong Han population, and the difference analysis between two groups was performed.Results Among the 24 Y-STR loci of 268 unrelated Han individuals from Eastern China, 235 alleles and 267 haplotypes were observed. GD value ranged from 0.5649 to 0.9668. The difference between 12 loci(DYS622,DYS552,DYS443etal.) of Han population in Eastern China and in Guangdong was statistically significance.Conclusion GFS 24Y STR amplification system shows favorable polymorphisms, which can be used in patrilineal genetic relationship identification.
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Objective To establisha multiplex STR genotyping m ethod for autosom al STR and Y-STR loci in forensic biological practice. Methods W idely used autosom al STR loci and Y-STR loci w ere se-lected. A set of PC R prim ers w as designed, and a 5-dye fluorescent labeled STR multiplex PC R reagent kit w as developed. Results A kit w as developed w hich can sim ultaneously detect 15 autosom al STR loci, 10 Y-STR loci, and an Amelogenin. Conclusion The 15 autosom al STR plus 10 Y-STR kit in com bination w ith capillary electrophoresis m ethod w as used to STR genotyping w ith accurate and reli-able results. The new one-step testing kit can potentially be w idely used in forensic cases and D N A databank in the future.
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Objective To establish a 29 Y-STRloci multiplex PC Rsystemfor investigating the genetic polymorphisms and to assess its application value in forensic science. Methods Amultiplex PC Rsystemw as established using a five color fluorescence labeling 29 Y-STRloci (DYS456, DYS389Ⅰ, DYS437, DYS447, DYS389Ⅱ, DYS438, DYS522, DYS460, DYS458, DYS622, DYS390, DYS392, DYS448, DYS449, DYS391, Y-GATA-H4, DYS388, DYS19, DYS385a/b, DYS527a/b, DYS393, DYS459a/b, DYS635, DYS439, DYS570 and DYS627) for multiple amplification and capillary electrophoresis. And its applicability w as validated w ith genetic polymorphismdata of 29 Y-STRof unrelated 2 000 male samples in Shandong Han population. Results Atotal of 1981different haplotypes of 2 000 individuals show ed genotype diver-sity betw een 0.370 0 and 0.965 4. The systemprovided stable and accurate typing w ith high sensitivity of 0.05 ng. It satisfied the needs of variety of routine biological samples. Conclusion The 29 Y-STRloci multiplex PC Rsystemcould be applied for actual cases and establishment of Y-STRdatabase. In addi-tion, it has great significance in forensic science practices and related research.
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Objective To explore the feasibility of detecting of Y-STR of fetal DNA in m aternal plasm a using Ion Torrent PGMTM System . Methods A total of 16 fetal DNA sam ples from m aternal plasm as (8 cases from 38 w eeks gestational age and 8 ones from 12 w eeks) w ere prepared and a m ultiplex assay w ith 7 STR loci (DYS390,DYS391,DYS393,DYS438,DYS437,DYS456,DYS635) w as designed for m ul-tiplex-PC R am plification. U sing Ion Torrent PGMTM System , the results of Y-STR sequences and capillary electrophoresis w ere obtained and com pared. Results Y-STR specific alleles w ere detected in the m ater-nal plasm a of all the pregnant w om en having m ale babies of second and third trim ester, w hich w ere higher than that detected by capillary electrophoresis. C onsistent Y-STR genotypes w ere observed betw een fetal DNA from m aternal plasm a and genom ic DNA from the new born babies. Conclusion B ased on Ion Torrent PGMTM System , the prenatal Y-STR detection m ethod m ay provide a high-sensitive and high-throughput choice for prenatal STR detection in forensic testing.
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Objective To investigate genetic polymorphisms of HPRTB, DXS6803 and DXS6809 STR loci in Tianjin Han female population, and to provide experimental data in the prenatal diagnosis of aneuploidies accurately and rapidly. Methods A total of 150 blood samples were collected in Tianjin Han population. QF-PCR and capillary electrophoresis were used in this study. The relevant data were analyzed by ABI Prism GeneMapper v3.0 software. Two homozygotes were se?lected from each locus for sequencing. The frequencies of the genotypes were checked using Chi-square test to verify Hardy-Weinberg Equilibrium. Data of genetic polymorphisms were calculated by PowerStatsV12 software. Results A total of 150 samples were successfully amplified in 24 hours. The 10, 6 and 10 alleles and 22, 12 and 29 genotypes were found respec?tively in HPRTB, DXS6803 and DXS6809 loci. The most common alleles were 14, 13 and 14. The higher frequencies of gen?otypes were 14-14, 12-13 and 13-14. No significant deviations from the Hardy-Weinberg equilibrium were observed in these three STR loci (χ2=10.554, 5.783 and 15.355, respectively, P>0.05). Values of He were 0.748, 0.649 and 0.806 for these three STR loci respectively. Values of Ho were 0.607, 0.700 and 0.713 respectively. Values of PIC were 0.706, 0.599 and 0.775 respectively. Values of PD were 0.894, 0.814 and 0.931 respectively. And values of PE were 0.299, 0.428 and 0.449 respectively. Conclusion HPRTB, DXS6803 and DXS6809 STR loci were highly polymorphic, which are favorable genetic markers on chromosome X and can be used in rapid prenatal genetic diagnosis.
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Hematopoietic stem cell transplantation is the curative option for patients with myelodysplastic syndrome; however, it requires a long post-transplantation follow-up. A 53-year-old woman with a diagnosis of myelodysplastic syndrome underwent related donor allogeneic hematopoietic stem cell transplantation in July 2006. Three months after transplantation, a comparative short tandem repeat analysis between donor and recipient revealed full chimerism, indicating complete, healthy bone marrow reconstitution. Three years and ten months after hematopoietic stem cell transplantation, the patient developed leukopenia and thrombocytopenia. Another short tandem repeat analysis was carried out which showed mixed chimerism (52.62%), indicating relapsed disease. A donor lymphocyte infusion was administered. The purpose of donor lymphocyte infusion is to induce a graft-versus-leukemia effect; in fact, this donor's lymphocyte infusion induced full chimerism. Successive short tandem repeat analyses were performed as part of post-transplantation follow-up, and in July 2010, one such analysis again showed mixed chimerism (64.25%). Based on this finding, a second donor lymphocyte infusion was administered, but failed to eradicate the disease. In September 2011, the patient presented with relapsed disease, and a second related donor allogeneic hematopoietic stem cell transplantation was performed. Subsequent short tandem repeat analyses revealed full chimerism, indicating complete bone marrow reconstitution. We conclude that quantitative detection of mixed chimerism is an important diagnostic tool that can guide early therapeutic intervention...