BACKGROUND: The special genetic law of short tandem repeat on chromosome X (X-STR) makes it incomparable with autosome markers in forensic identification. However, the population genetics data is far less than that of the autosome STR, and especially the haplotype data are rarely reported.OBJECTIVE: To study the genetic polymorphism of 12 X-STR loci in Shenzhen area by pedigree analysis, aiming to provide scientific and effective data for the application of X-STR in forensic medicine and genetics. METHODS: The blood samples of 118 families were taken to extract DNA by Chelex-100, followed by PCR amplification using Investigator Argus X-12 kit. The frequency of alleles of 231 unrelated individuals was counted by direct counting method and Excel software. Hardy-Weinberg equilibrium test was performed on 12 X-STR loci of female samples by chi-square test. Discrimination power and mean exclusion chance were calculated according to the formula. Pedigree analysis was done to identify haplotypes of female samples and the haplotype frequencies of 4 linkage groups in 111 fathers and 119 mothers were calculated using direct counting method and Excel software.RESULTS AND CONCLUSION: In this study, 349 haplotypes were obtained. There were 238, 139, 153 and 157 haplotypes in linkage groups X1-X4, respectively. The polymorphism of DXS10135 locus was the highest with 21 alleles,while the polymorphism of DXS7423 locus was the worst with only 4 alleles. The combined discrimination power was 0.99999999 in males and 0.99999999 in females. The combined mean exclusion chance was 0.99999999 in trio cases,and 0.99999811 in duo cases. These findings indicate that the X-12 detection system has high polymorphism in Shenzhen Han population, and has important application value in forensic individual identification and paternity testing.

目的 研究Y-STR的异常基因分型结果,获得更多的Y-STR遗传信息,为法医学鉴定提供依据.方法 根据常染色体STR基因座的分型结果,将标本分为2组:“排除父子关系”的为1组,共49个案例,98个标本;“支持父子关系”的为1组,共252个案例,509个标本.采用Chelex方法提取血样DNA,使用AmpFlSTR(R) YfilerTM试剂盒扩增16个Y-STR基因座并通过ABI 3130xl测序仪电泳、分析Y-STR基因型.结果 在“支持父子关系”的509个标本中,除了单个基因的一步突变以外,9个标本出现了异常基因型.有3对父子(6个标本)的异常基因型出现在DYS385基因座,表现为三带型(13,14,18,峰高比例约为1∶1∶2)、四带型(13,17,18,20,峰高比例约为2∶1∶1∶1)、四带型(13,18,19,21,峰高比例约为2∶1∶1∶1);有1对父子在DYS439基因座出现双基因(12,13,其峰高比例约为1∶1);另外1对父子,儿子在DYS389Ⅱ基因座为双基因(28,29,其峰高比例约为1∶1),但其父为正常单基因(28).在“排除父子关系”的98个标本中有两个标本均在DYS448基因座发生了基因缺失.经统计,单基因座出现多个基因的发生率为1.4％,基因缺失的发生率为0.57％.结论 Y-STR分型中异常基因型的发生率虽然不高,但仍然存在一定的比例,在法医工作中需慎重对待,增加更多的STR基因座有助于正确地判断分析.

目的了解本市献血的相关信息,以制定有针对性地宣传招募策略,提高固定献血者的比例。方法以无记名问卷调查表方式进行调查,内容涉及献血目的、获得献血信息的渠道、影响献血的因素和献血感受等4大类问题。发放调查表1 000份,有效答卷659份,并进行统计分析。结果 1)56.6%初次和74.0%的重复献血人群表示其献血目的为"挽救生命"和"社会责任",男女献血人群中无统计学差异(P>0.05)。2)男、女性重复献血人群因"无意间看到献血站(车)"而获得献血信息的分别占64.7%和47.8%,从"新闻媒体"得知献血消息的占47.0%和35.4%,且男女性间有统计学差异(P<0.05),选择"朋友推荐"的则分别占26.9%和27.5%。3)男、女重复献血人群选择"没有时间献血"的分别占68.9%和43.4%,"担心献血医用品安全"的占20.5%和25.3%,和"可能影响身体健康"的占16.3%和20.7%(P<0.05)。16.9%的女性重复献血者易受到"朋友或媒体的负面宣传"的影响。4)重复献血人群献血过程中和献血后积极感受与不良感受的比例分别为36.9%和8.4%,初次献血人群分别为10.6%和2.5%,存在显著差异(P<0.01),且女性高于男性。结论深圳无偿献血"挽救生命、社会责任"的宣传已经获得广泛认同,而今后的无偿献血的宣传发动的重点内容包括:应针对性地在人流大的闹市区域增加献血点,延长时间;继续加强"献血安全、无碍健康"的宣传;和发挥献血志愿者自身的宣传作用,带动亲朋好友参加献血,不断扩大献血人群队伍,提高献血者中固定献血者(含骨髓志愿者)的比例。

<正>目的调查广东汉族人群D22S1045、D1S1656、D2S441和D10S1248等4个短串联重复序列(STR)基因座的遗传多态性。方法采用德国Qiagen公司的Hexaplex ESS试剂盒复合扩增169个广东汉族个体的4个STR基因座。扩增产物经美国ABI公司的3100遗传分析仪电泳分析其基因型,在各基因座均符合Hardy-Weinberg平衡的基础上计算其遗传学参数:基因频率、杂合度(H)、多态信息含量(P1C)、个体识别能力(PD)和非父排除率(PE)。结果169名无关个体4个STR基因座中共检出40个等位基因,4个基因座的基因型分布均符合Hardy-Weinberg平衡(P>0.05),

<正>目的调查广东汉族人群12个短串联重复序列(STR)基因座(D7S1517、D3S1744、D12S391、D2S1360、D6S474、D4S2366、D8S1132、D5S2500、D18S51、D21S2055、D10S2325、SE33)的遗传多态性。方法采用德国Qiagen公司的HD-plex试剂盒复合扩增181个广东汉族个体的12个STR基因座。扩增产物经美国ABI公司的3100型遗传分析仪电泳分析其基因型,在各基因座均符合Hardy-Weinberg平衡的基础上计算其遗传学参数:基因频率、杂合度(H)、多态信息含量(PIC)、个体识别能力(DP)和非父排除率(PE)。

Objective To monitor the transplantation level of donor-cell and the variation of the chimera at real-time, according to a qualitative and quantitative detection of the short tandem repeat (STR)loci labeling with fluorescence in the hematopoietic stem cell of transplantation patients. Methods Using multiplex polymerase chain reaction (PCR) method, we detected 15 STR loci labeling with fluorescence in blood samples of 36 donor-recipient pairs. According to the different genotypes of STR loci between donors and recipients, we qualitatively evaluated whether the donor cells were successfully transplanted and the type of chimera (mixed or completed). According to the relative quantity of donor cells and recipient cells in the mixed chimera, we quantitatively analyzed the transplantation level and the variation regularity of the donor cells. Results Eight to fifteen different STR loci were found in the 36 donor-recipient pairs (means at 11.9). The first time of the donor's STR gene which detected in the recipient was range from 5 to 14 days (means at 7.56 days). The ambulant monitoring results indicated that 31 of 36 recipients were transformed as completed chimera(CC) and the average completely transformed time of STR genotypes from recipient to donor was 14.17 days (from 9 to 23 days). Five recipients were found as mixed chimera (MC), among them, 4 recipients were found as continuous MC and the other one was transformed as continuous CC after 49 days. Conclusion In hematopoietic stem cell transplantation, qualitative and quantitative detection of STR loci in donor-recipient pairs could provide the early direct evidence to evaluate whether the donor cells are successfully transplanted. It also alarms the relapse of leukemia and the treatment of protopathy by analyzing the type and the variation of the chimera.

Objective To examine the correlation between breast cancer and HLA-DRB1 alleles of class Ⅱ.Methods Using FLOW-SSO HLA typing methods and LUMINEX 200 liquid analysis platform to 112 cases of breast cancer patients,which have been confirmed by clinical cases group.Control group is the 20,621 volunteer donors,which from Guangdong sub-library,"Chinese hematopoietic stem cell volunteer donor database ".PCR-SSP typing confirmed the ambiguous allele pairs.All DNA samples extracted from the peripheral blood of anticoagulant EDTA-K2 by automatically extracted station of Swiss TECAN Company.Results 27 alleles of HLA-DRB1 were found in the 112 patients with breast cancer.The distribution of the allele HLA-DRB1 between the case group and control group had the statistically significance(χ2=42.39,ν=27,P<0.05).By further analysis,we found that the allele frequency of HLA-DRB1 *0408 in case group was higher than that of the control group(AFcase group=0.008 9,AFcontrol group=0.001 4,χ2=4.19,P<0.05).Relative risk RR=6.34(χ2=4.20,P<0.05).The allele frequency of HLA-DRB1 * 0901 in case group was 0.205 4,while in control group was 0.150 1,the case group was higher thant hat of the control group(χ2=5.33,P<0.05).Relative risk RR=1.63(χ2=6.50,P<0.05).The allele frequency of HLA-DRB1 * 0701 is 0.026 8 in case group,while AF=0.086 1 in control group(χ2=10.00,P<0.05).Relative risk RR=0.24(χ2=11.37,P<0.05).Other allele′s frequency distributions and relative risk,which were examined by χ2 test(P>0.05),had no statistically significance.Conclusion HLA-DRB1 * 0408 and HLA-DRB1 * 0901 may be the two susceptibility genes of the breast cancer,and HLA-DRB1 * 0701 may be the protected gene avoiding the breast cancer.

OBJECTIVETo analyze the full intronic sequences of human leukocyte antigen (HLA)-A alleles in Han Chinese.METHODSThe full-length HLA-A alleles, including 8 exons and 7 introns, were amplified with a long-template PCR system from 165 donors from the Chinese Marrow Donor Program (CMDP). The products were cloned into a PGEM-T Vector System and sequenced from both directions. Genetic analysis was performed using a MEGA4.0 software. All sequences were aligned with a ClustalW algorithm. Phylogenetic trees were constructed with a neighbor-joining method. Genetic distances were estimated based on p-distance, and a bootstrap analysis was applied for assessing the confidence limits of the trees.RESULTSA total of thirty-three full-length sequences of HLA-A alleles, containing 2902-2918 nucleotides, were derived. A total of 138 point mutations and 9 insertions or deletions were found among the 7 introns, which showed remarkable group specificity. Intron 1 appeared to be most polymorphic with the highest average GC content and evolutionary distances. Eight phylogenetic trees were constructed respectively with the derived full-length sequences as well as each of the 7 introns sequences. Based on full-length sequences, sequences of the HLA-A locus were classified into five groups: group I consisted of A*01/03/11/30; group II consisted of A*23/24(A9); group III consisted of A*02/68/69(A2/28); group IV consisted of A*26/34(A10); and group V consisted of A*29/31/32/33/74(A19). The five groups were derived from two ancient lineages, one including groups I and II, and another including groups III, IV and V. No substantial difference was detected between the trees constructed with the 7 intronic sequences, except that group II belonged to different lineages based on introns 2-5 and introns 1 and 7. The A*30 variant cluster was close to group I (A*01/03/11/30) and differed from group V (A19).CONCLUSIONThe full-length sequences of 18 alleles have been submitted to GenBank and accepted by the international ImMunoGeneTics database (IMGT). Polymorphisms identified within the introns of HLA-A alleles showed remarkable group specificity. Such sequences seem to have substantially contributed to the recombination of the HLA-A alleles. The A*30 may represent an atypical group in which the rates of gene conversion and mutation have been unusually high.

背景:人类白细胞抗原基因测序分型中,当等位基因的差异碱基位于测序范围之外或不同等位基因对的杂合序列相同时,无法得到清晰的结果.目的:通过完整外显子2/3序列的测定,解决常规HLA-DRB1基因分型中的高比例歧义结果.方法:初次分型采用常规的测序方法检测320份样本的HLA-DRB1外显子2第一高变区以外的序列,测序反应设置codon86.后期采用一次性扩增外显子2/3,测序反应针对外显子2设置组特异性引物:DRB1*04/07/09为一组,其它基因家族为一组,设置conden86,对初次分型后为歧义结果的样本重新分型.结果与结论:初次分型有180份样本为歧义结果,占总样本数的56.25 %.其中A类为差异碱基位于测序范围之外,共114例;B类为等位基因对的杂合序列相同,共17例;C类为两种情况同时存在,有49例.3种类别的歧义等位基因数分别为119个、34个、98个,占等位基因总数的33.06%、9.44 %、27.22%.完整外显子2/3序列的测定使歧义结果比例从56.25%下降到14.37%,其中A类103例、B类8例、C类23例样本的等位基因得到确认.此次研究中发现了一个新等位基因,与跟它最相近的等位基因DRB1*110101相比,其外显子3的第381位碱基G>T,导致第98位氨基酸AAG(赖氨酸 Lys)>AAT(天冬酰氨 Asn).序列已提交Genbank,编号HM807583,2010-08被世界卫生组织HLA因子命名委员会命名为HLA-DRB1*1197(编号HWS10010999).提示,完整外显子2/3序列的测定能大幅降低歧义分型结果的比例.

Objective To study the resolution program of ambiguous HLA genotypes for China Marrow Donor Program(CMDP). Methods 20621 donors from CMDP were genotyped by PCR-SBT method for their HLA-A, B and DRB1 loci. The ambiguous genotyping samples were identified by using other molecular biological methods. Furthermore, the relative frequencies of true genotype for ambiguous samples were calculated by allele frequencies which from the above accurately genotyping results. Result The ratio of ambiguous genotypes was 53.88％(11 110/20 621), 66.43％ (13 697/20 621) and 70.95％(14 630/20 621) for HLA-A, B, DRB1 locus in the 20 621 donors, respectively. Among them, the ratio of ambiguous allelie-pairs for HLA-A, B, DRB1 locus was 1.34 ％ (277/20 621), 23.30％ (4 804/20 621)and 58.76％ (12 116/20 621), respectively. The ratio of ambiguous genotypes was 52. 54 ％ (10 834/20621), 56.13％ (11 574/20 621) and 59.76％ (12 323/20 621), respectively. Two alleles were found only B * 07105/07:06 and DRB1 * 08 : 03/08 : 14 allelic-pairs in 15 kinds of allelic-pair, the other 13 kinds only found one allele. Among the 11110 HLA-A, 13697 HLA-B and 14630 HLA-DRB1 ambiguity samples,The relative frequencies of 98.27%(10 918/11 110) HLA-A, 98.46%(13 486/13 697)HLA-B and 99.47％ (14 553/14 630)HLA-DRB1 samples were higher than 95%. The genotype with relative frequency which were lower than 50％ could be found in A * 01:01/11:04, A * 24:03/33:10, A * 33:01/66:01, B * 35:27/55:02, B* 38:01/78:02, B* 44:02/55: 16, B* 53:01/55:01, DRB1 * 03:02/13:01, DRB1 * 04:10/ 13:03, DRB1 * 11 : 06/13:03 and DRB1 * 12: 01/15: 04, etc. The accuracies of HLA-A, B and DRB1 genotypes by PCR-SBT method were all higher than 98％[99.07% (20 429/20 621), 98.98％ (20 410/20 621) and 99.63%(20 544/20 621) respectively], which just directly based on the relative frequency but discounted any other molecular biological methods to resolve the ambiguities. Each locus had about one percent samples with wrong genotypes. Conclusion It is a simple, rapid and cost-saving method with higher accuracy and reliability using relative frequency which calculated from allele frequencies to directly identify the ambiguous HLA genotypes in large-scale donors genotyped by PCR-SBT method, but it must be carefully used in the identity-test of patient-donor pairs before the transplantation.

目的研究增加Penta D、Penta E和SE33位点基因座的检测后,对二联体亲子鉴定亲子关系概率(RCP)值的影响。方法对二联体亲子鉴定案例除了进行ABI公司提供的AmpFISTR IdentifilerTM试剂盒中的15个STR位点检测以外,增加美国Promega公司的Penta D、Penta E和SE33试剂盒复合扩增STR位点的检测,并计算增加检测位点前后的亲权指数和RCP。结果 135例二联体亲子鉴定案例中有109例常染色体RCP值大于99.99%,频率为80.74%。26例RCP值小于99.99%,频率为19.26%。增加Penta D、Penta E和SE33位点基因座检测后有83.33%的家系由原来的RCP值小于99.99%转变为RCP值大于99.99%。结论增加遗传标记物的检测可以有效提高二联体亲子鉴定的RCP值,从而提高鉴定的准确性。

OBJECTIVE:To analyze the human leukocyte antigen complex class I (-A, -B & -C) and class II (-DRB1 & -DQB1) linked haplotypes of Guangdong Han nationality and to study the recombination events of five classical loci in the inheritance of HLA haplotypes.METHODS:A total of 939 peripheral blood samples were collected from 198 families in Guangdong Han nationality who came to our center for HLA typing from 2000 August to 2009 December. HLA-(A, B & DRB1) and HLA-(C & DQB1) alleles were typed by low-resolution polymerase chain reaction-sequence specific oligonucleotide probes (PCR-SSO) and PCR-sequence specific primers (PCR-SSP) methods respectively. Then the recombination sites were analyzed by familial study. The samples of 52 individuals from the families with exchange recombination were analyzed by the sequence-based typing (SBT) to judge whether the recombination was interallelic or interlocus exchange.RESULTS:Among 543 offspring individuals of 198 families in Guangdong Han nationality, 9 individuals with HLA-A-C-B-DRB1-DQB1 linked haplotypes had a recombination rate of 1.657%. Among 9 HLA haplotypes recombined families, 3 of them were found to have a crossover between HLA-A and -Cw loci and 6 of them a crossover between HLA-B and -DRB1 loci. Four of these recombination events occurred in the most common haplotypes A*3303-Cw*0302-B*5801-DRB1*0301-DQB1*0201 of Guangdong Han nationality. Among 9 cases of recombination, 5 of them were formed by a crossover between maternal chromosomes and 4 cases a crossover between paternal chromosomes. Three individuals with an exchange between A/Cw loci were all females. Among 6 cases with an exchange between B/DRB1 loci, 5 of them were males and 1 case was female.CONCLUSION:During the inheritance, recombination of HLA linked haplotype mainly occurred between A/Cw loci and B/DRB1 loci, the recombination is related to the haplotype-specificity and sex-specificity.

Objective To analysis the genomic sequence of a novel human leukocyte antigen (HLA)-B*3818 allele.Methods Full length genomic sequence of an unknown HLA-B allele was cloned,followed by bi-directional sequencing and the specificity of the antigen coded by this novel allele was defined by microcytotoxicity assay.The frequency and haplotype of this novel allele was acquired by population census and parentage analysis.Results The full length genomic sequence of this novel HLA-B*3818 allele with accession number FJ561482 differs from HLA-B*380201 by two nucleotide changes in exon 4 and intron 5,respectively.One change is located at nt 660 in exon 4 where C→A alternation,which results in an amino acid substitution from Asp(GAC)to Glu(GAA)at codon 196.This alternation is a new single nucleotide polymorphism compared with all other HLA-B alleles.Another is located at genomic position 2133 in intron 5(A→C).Except for this substitution,the intron sequences of HLA-B*3818 allele are identical to those of other HLA-B*38 alleles including HLA-B*380101,B*380201 and B*3814.The serological specificity of HLA-B*3818 is B38 and the frequency of this new allele is less than 0.000 5 in Chinese Han population.The parentage analysis showed the haplotype of novel allele is A*030101-Cw*010201-B*3818-DRB1*1312-DOB1*060101.Conclusion The simultaneous mutations in exon and intron were found in the Hovel HLA-B*3818 allele,and so it can present more sequence information for studies and applications associated with HIA genes by analyzing the genomic sequences of novel HLA alleles.

Objective To study the polymorphisms of human leukocyte antigen (HLA)-A, B and DRB1 genes and haplotypes at high-resolution level in Northern Chinese Han population. Methods 631 randomly selected Northern Chinese Han individuals were genotyped by polymerase chain reaction-sequence based typing (PCR-SBT) method for their HLA-A, B and DRB1 genes, and then the frequencies of alleles and haplotypes were estimated by maximum-likehood estimation method. Results Thirty HLA-A alleles were observed and five common alleles with frequencies higher than 0.05 which included A * 1101, A * 2402, A* 0207, A * 0201 and A * 3303 accounted for 69.26% of the total for HLA-A locus. Sixty-four alleles were seen at HLA-B locus, and B* 4001,B* 4601,B* 5801 and B* 1502 were the most frequent with frequencies higher than 0.05 which comprised 38.11% of the total. Among the forty-one HLA-DRB1 alleles, seven alleles with frequencies higher than 0.05 included DRB1 * 0901, DRB1 * 1501, DRB1 * 1202,DRB1 * 0701, DRB1 * 0803, DRB1 * 1101 and DRB1 * 0405, which accounted for 59.98% of the total. 499 A-B, 659 B-DRB1 and 2 426 A-B-DRB1 haplotype were,observed,respectively. 38 A-B, 39 B-DRB1 and 31 A-B-DRB1 haplotypes showed frequencies higher than 0.005 which comprised 59.82%,53.69% and 32.38% of the total. The most frequent haplotype was A * 0207-B * 4601, B * 4601-DRB1 * 0901 and A * 0207-B* 4601-DRB1 * 0901 for each type. Conclusion The presented allelic frequencies and haplotype diversities at high-resolution level in Northern Chinese Han population could be served as reference standard for the anthropology, legal medicine, transplantation matching and disease association studies.

目的探讨深圳地区1069例妊娠期孕妇血清中红细胞血型IgG类抗体特异性、效价对母婴血型不合引起的新生儿溶血病(HDN)的影响,为新生儿免疫溶血性疾病的早期诊断及预防提供依据。方法对深圳地区的1069例与丈夫红细胞血型不合的孕妇血清进行IgG类抗体筛选,对不规则抗体阳性者鉴定抗体的特异性,采用以间接抗球蛋白法定期检测相应抗体的效价。并随访高胆红素血症的新生儿,对其进行红细胞直接抗球蛋白试验、血清游离试验和红细胞放散试验等,以了解黄疸患儿中因红细胞血型IgG抗体引发HDN的构成。结果1069例样本中,IgG抗A/B效价≥64者765例,产生HDN的457例;IgG抗A/B效价<64者236例,产生HDN的61例。ABO-HDN占总调查人数45.65%。IgG抗D、C、D+C、M、Mur≥16者57例,产生HDN的54例;IgG抗D、C、D+C、M、Mur<16者11例,产生HDN的1例。非ABO-HDN占总调查人数5.14%。结论深圳地区的孕妇血清中IgG类抗体效价与新生儿溶血病密切相关,HDN发病率有明显偏高的现象。定期筛选与鉴定孕妇体内IgG类抗体可预测新生儿溶血病的发生、评估HDN的严重程度及提高HDN的治愈率。

目的通过对深圳地区123名无偿献血员血清中群体反应性抗体(PRA)的检测,研究无偿献血群体血清中HLA抗体的水平及分布情况。方法使用Luminex100流式磁珠仪和美国One Lambda公司的Lab-screen流式磁珠试剂盒进行PRA检测,检测标本为随机抽取的深圳地区无偿献血员的血样标本共123人份。结果 123人份标本中有10例结果为阳性,阳性率为8.13%,113例为阴性。在10例阳性标本中,7例献血者有妊娠史,2例献血者有输血史。结论在随机抽取的献血者中,有8.13%的PRA阳性率,曾有过输血史和妊娠史的献血者PRA阳性率明显高于无输血史和妊娠史的献血者,因此在临床输血中需要注意积极预防,对有输血史和妊娠史的献血者的血浆应注意配合性输注。

Objective To study the polymorphism and (analysis) analyze the linkage disequilibrium parameters of human leukocyte antigen (HLA)-A, C, B, DRB1 and DQB1 genes at high-resolution level in Chinese Han population from Guangdong province. Methods One hundred and forty-four randomly selected Chinese Han hematopoietic stem cell donors from Guangdong province were genotyped by polymerase chain reaction (PCR) sequence-based-typing (SBT) method for their HLA-A, B, C, DRBI and DQB1 genes, and then the allele frequencies, haplotype frequencies and the linkage disequilibrium parameters were computed by a PyPop software. Results A novel HLA-Cw~* 0340 allele was found in this population. For class Ⅰ HLA genes, there were twenty-seven, twenty-four and fifty-four alleles (were) observed in HLA-A, C and B locus respectively, and among them, the common alleles with frequencies higher than 0.05 were A~* 1101, A~* 2402, A~*0207, A~*0201, A~*3303, A~*0203, Cw~*0102, Cw~*0702, Cw~*O304, Cw~*0801, Cw~*0302, B~*4601, B~*4001, B~* 1301, B~* 5801 and B~* 1502. For class Ⅱ HLA genes, thirty DRB1 alleles and fifteen DQB1 alleles were observed and the frequent alleles with frequencies greater than 0.05 included DRB1~* 0901, DRB1~* 0301, DRB1~* 1501, DRB1~* 1202, DRB1~*0803, DRB1~* 1101, DRB1~* 1602, DQB1~* 0303, DQB1~* 0301, DQB1~* 0502, DQB1~* 0601, DQB1~* 0201, DQB1~* 0302 and DQB1~* 0501. The most frequent haplotypes were all constructed by the combination of according alleles which included A~* 0207, Cw~* 0102, B~* 4601, DRB1~*0901 and DQB1~* 0303 for all two-loci HLA haplotypes and three kind extended HLA haplotypes (A-C-B, A-B-DRB1 and A-C-B-DRB1-DQB1), except that the A-DQB1 haplotype was A~* 1101-DQB1~* 0301. Strong linkage disequilibrium was observed between in any two HLA genes. The ratio of informative linkage disequilibrium haplotyptes with statistically significant ranged from 21.99% to 31.63% (X~2 > 3.84, P <0. 05)and there were 156 halotypes with frequency ≥0.01 in total. Conclusion The presented allellelic frequencies, haplotype diversities and hnkage disequilibrium parameters at high-resolution level in Chinese Han population from Guangdong province can provide more insights into the studies and applications association with HLA genes.

目的 研究增加Y-STR位点和HLA基因座的检测后,对二联体亲子鉴定亲子关系相对机会(RCP)值的影响. 方法 对二联体亲子鉴定案例除常规进行ABI AmpFLSTR IdentifilerTM试剂盒中的15个常染色体STR位点检测以外,增加ABI YfilerTM系统中的17个Y-STR或HLA-A、-B、-DRB1基因座的检测,并计算增加检测位点前后的亲子关系指数(PI)和RCP. 结果 经ABI IdentifilerTM试剂盒检测的135例二联体亲子鉴定,RCP值99.99%案例为109例,占80.74%,其余的26例(19.26%)RCP值均99.73%、但<99.99%,在这26例单亲案例中, 18例 "母-子"单亲案例增加HLA-A、-B、-DRB1基因座检测后,其中的15例RCP值＞99.99%;8例 "父-子"单亲案例增加了17个Y-STR检测后,RCP值则均超过了99.99%. 结论 增加Y-STR或HLA-A、-B、-DRB1基因座等遗传标记物的检测,可有效提高二联体亲子鉴定的RCP值,从而提高鉴定的准确性.