1、HEREDITAS (Beijing) 2008 M 5 , 30(5): 590 594 ISSN 0253-9772 研究报告 收稿日期: 20071010; 修回日期: 20071215 基金项目: SE$?Z?(973 9) “( I|: 2007CB516702)aSE1 S( I|: 30470577) “SE E S/19 “(I|: 2001BA901A49) Supported by National Basic Research Program of China (973 Program) (No. 2007CB516702), Chinese National Natu
2、ral Science Foundation (No. 30470577) and “The Tenth Five Year Plan” National Tackle Problem Item (No. 2001BA901A49) 作者简介: f S(1974 ), 3 , , =, p VbZ_ *L.bTel: 029-88303328; E-mail: 通讯作者: f(1947 ), 男, q, p V 3 =bZ_ * 3bTel: 029-88303328; E-mail: DOI: 10.3724/SP.J.1005.2008.00590 GDI1y U u8 NSMR# M
3、1 张科进1, 杜云1, 郑子健2, 高晓彩1,2, 黄绍平3, 李瑞林3, 陈超4, 张富昌1,21. v 3 S gr B , 710069; 2. v 5 , 710069; 3. Yv= D , 710004; 4. vSE_ , 710069 K1: 用来自中国中西部秦巴山区的非特异性精神发育迟滞患者及正常对照人群为样本, 通过研究分别位于GDI1基因第7外显子剪接区和第8外显子上的rs2276462和rs11549300两个功能SNP位点的多态性, 探索GDI1基因的多态现象与当地儿童的精神发育迟滞及其智力水平的相关性。在样本人群中仅观察到rs11549300位点的多态现象, 而r
4、s2276462位点在秦巴山区儿童中十分保守。病例-对照分析结果显示, rs11549300位点多态性与秦巴山区儿童的非特异性精神发育迟滞无显著相关性(P0.05), 但是其多态现象可能与当地儿童的智力水平有一定的相关性( P=0.03), 但是这一结论还需要在更大样本中, 通过选择更多的遗传标记来进一步确证。 1oM: 非特异性精神发育迟滞; 智力; 功能多态性 Relationship between the polymorphisms of GDI1, chil-dren NSMR and their intelligence in Qinba region ZHANG Ke-Jin1,
5、 DU Yun1, ZHENG Zi-Jian2, GAO Xiao-Cai1,2, HUANG Shao-Ping3, LI Rui-Lin3, CHEN Chao4, ZHANG Fu-Chang1,21. College of Life Science, Institute of Population and Health, Northwest University, Xian 710069, China; 2. College of Public Management, Institute of Application Psychology, Northwest University,
6、 Xian 710069, China; 3. Second Hospital, Xian Jiaotong University, Xian 710004, China; 4. National Engineering Research Center for Miniaturized Detection System, Xian 710069, China Abstract: The subjects of this study were recruited from Zha Shui and An Kang counties in the Qinba mountain region loc
7、ated in Middle-west China. The present study discussed the relationship between the variations of GDI1 with the chil-dren NSMR and their intelligence levels. The case-control association analysis method was used to analyze the association between the polymorphisms of two functional SNPs (rs2276462 a
8、nd rs11549300) located in splicing site of the seventh exon and the eighth exon respectively, with NSMR and their different intelligence levels. It does not find out the polymor-phism of rs2276462, because of its conservation. The results of case-control analysis indicated that, no association betwe
9、en the rs11549300 polymorphisms and children NSMR (P 0.05), but its polymorphisms may be related to intelligence levels 5 f S : GDI1y U u8 NSMR # M1 591 of children in Qinba region (P =0.03). And a further work should be done to verify the conclusion of this study using the more genetic markers of G
10、DI1 in a larger sample. Keywords: non-specific mental retardation; intelligence; functional polymorphism *? (Mental retardation, MR)g , ? 3 3? , ? sE? 1+ , ? s a 41 “5VCBF%h1b “5 , i L.MR, B “58+s MR(Specific MR, SMR), 6B “58d+sMR(non-specific MR, NSMR)2b MRL.KSMR , VK* f8(Downs syndrome)3a18 8(Edwa
11、rds syndrome)4 8hy cX 8 (Fragile X Syndrome)5, MRL.y ib , 20 W 90 M , NSMRL. s 0.05)(V 1)b 2.2 rs11549300 yy qNSMRh - v s1 V 2 rs11549300yy q NSMRFvFs1 boY, Monte Carlo E TA U , yy Fs (As (P0.05); 3Y, y qsgAs( P0.05)b 表 1 rs11549300位点基因型和等位基因的频率分布 Table 1 Frequencies of genotypes and alleles of rs11
12、549300 9 Total 3Y Boys oY Girls SNP Number% Number % Number%yAlleles G 492 0.72 177 0.78 315 0.76T 151 0.28 50 0.22 101 0.24yaGenotypesGG 120 0.58 120 0.58GT 75 0.36 75 0.36TT 13 0.06 13 0.06W- u _bHardy-Weinberg test P = 0.780 a3Y rs11549300 y yM ; bS oYW- _, 3 o y q1 b a The genotypes of boys had
13、represented by alleles of rs11549300; b Hardy-Weinberg test had be done only for girls, and compare the difference frequencies of alleles between boy and girl sequen-tially. 表 2 rs11549300位点基因型和等位基因频率在两个人群中的比较 Table 2 Frequencies of genotypes and alleles of rs11549300 in the case-control sample y#y
14、qsaFrequencies of genotypes and alleles (%) h vs MR vs. Controls y Genotypes y Alleles Y Sex sF Groups n GG GT TT G T y Genotypes yAlleles v Control 148 89 (0.60) 53 (0.36) 6 (0.04)231 (0.78) 65 (0.22) 0.106 o Girl h Case 60 31 (0.52) 22 (0.37) 7 (0.12)84 (0.70) 36 (0.30) 0.083 v Control 177 137 (0.
15、77) 40 (0.23) 3 Boy h Case 50 33 (0.66) 17 (0.34) 0.101 a rs11459300 X 8 , 3Yy qb a Boys have only allele frequency because of the location on X chromosome for rs11459300. 5 f S : GDI1y U u8 NSMR # M1 593 2.3 rs11549300 8 1“s vPlomin 16y H ZE, E | sb , |8 s F, F(IQ85) bVV 3 _T V A, rs11549300 8s s(
16、P85 100 67(0.67) 30(0.30) 3(0.03) 164(0.82)36(0.18)P value P =0.094 P =0.030 bIQ85 119 94(0.79) 25(0.21)P value P = 0.059 a: s8 , s8ys8 ; b: 83V UrAs(P0.05)ba: Some of children did not have IQ performance, so the number is less than that of successful genotyping; b:Bold font indicates sig-nificantly
17、 associated statistic (P0.05). 3 ) U u BM a u , u S *? ub hA U, W 3F *?S(WHO, 1997, Geneva), uv 218 000 *?, 66 000 8, 8h qv 2.78%, T H8, 5r 8.23%17b u MRL.V9?C , NSMR AEV “ , L. qr 70.23%18, 19b / NSMR1 “5+ , 78W i“ Bs , NSMR 9 “1Fs20byN , L.ZEGDI1 y U u8NSMR# 1“ , !9Z Z : (1) - TV , U u NSMR L.$; (
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