中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
3期
256-260
,共5页
曾丽苹%胡正茂%穆莉莉%梅桂森%路秀玲%郑永军%李培建%张瑛雪%潘乾%龙志高%戴和平%张灼华%夏家辉%赵靖平%夏昆
曾麗蘋%鬍正茂%穆莉莉%梅桂森%路秀玲%鄭永軍%李培建%張瑛雪%潘乾%龍誌高%戴和平%張灼華%夏傢輝%趙靖平%夏昆
증려평%호정무%목리리%매계삼%로수령%정영군%리배건%장영설%반건%룡지고%대화평%장작화%하가휘%조정평%하곤
偏执型精神分裂症%未分化型精神分裂症%1号染色体%6号染色体%连锁分析
偏執型精神分裂癥%未分化型精神分裂癥%1號染色體%6號染色體%連鎖分析
편집형정신분렬증%미분화형정신분렬증%1호염색체%6호염색체%련쇄분석
paranoid schizophrenia%undifferentiated schizophrenia%hromosome 1%chromosome 6%linkage analysis
目的 探讨中国人群中精神分裂症亚型与1号染色体长臂1q21-25和6号染色体短臂6p21-25易感基因位点的相关性.方法 在染色体1q21-25区域中选择5个微卫星标记和6p21-25区域中选择8个微卫星标记对36个来自中国河南省的精神分裂症家系(19个偏执型和17个未分化型)中的242个个体进行基因分型及参数和非参数连锁分析.结果 36个精神分裂症家系的1号染色体参数分析时,在显性遗传模式下,D1S484得到多点异质性对数优势记分法(heterogeneity Log of odds score method,HLOD)值为1.33 (α=0.38).非参数分析时,在D1S484得到多点非参数连锁(nonparametric linkage,NPL)值为1.89(P=0.0188);D1S2878单点NPL值为2.11(P=0.0111),多点NPL值为2.41(P=0.0053);D1S196多点NPL值为1.59(P=0.0383).提示以上3个位点存在连锁.在17个未分化型家系中,D1S484多点NPL值为1.60(P=0.0367);D1S2878单点 NPL值为1.95(P=0.0145),多点NPL值为2.39(P=0.0041); D1S196多点NPL值为 1.74(P=0.0255).这与以上36个家系提示连锁的位点相同.在19个偏执型家系中,5个微卫星标记位点均未提示连锁.36个精神分裂症家系的6号染色体分析发现,除19个偏执型精神分裂症家系参数连锁分析在隐性模式下D6S289位点单点HLOD值为1.26(α=0.40),多点HLOD值为1.12(α=0.38)和非参数连锁分析在D6S289位点单点NPL值为1.52(P=0.0402),多点NPL值为1.92(P=0.0206)之外,36个精神分裂症家系总体分析和其中17个未分化型家系分型分析的结果显示8个微卫星标记位点均未提示有连锁.结论 在染色体1q23.3 和1q24.2区域可能存在与中国河南省未分化型精神分裂症相关的易感基因;在6p23区域可能存在与偏执型精神分裂症相关的易感基因.
目的 探討中國人群中精神分裂癥亞型與1號染色體長臂1q21-25和6號染色體短臂6p21-25易感基因位點的相關性.方法 在染色體1q21-25區域中選擇5箇微衛星標記和6p21-25區域中選擇8箇微衛星標記對36箇來自中國河南省的精神分裂癥傢繫(19箇偏執型和17箇未分化型)中的242箇箇體進行基因分型及參數和非參數連鎖分析.結果 36箇精神分裂癥傢繫的1號染色體參數分析時,在顯性遺傳模式下,D1S484得到多點異質性對數優勢記分法(heterogeneity Log of odds score method,HLOD)值為1.33 (α=0.38).非參數分析時,在D1S484得到多點非參數連鎖(nonparametric linkage,NPL)值為1.89(P=0.0188);D1S2878單點NPL值為2.11(P=0.0111),多點NPL值為2.41(P=0.0053);D1S196多點NPL值為1.59(P=0.0383).提示以上3箇位點存在連鎖.在17箇未分化型傢繫中,D1S484多點NPL值為1.60(P=0.0367);D1S2878單點 NPL值為1.95(P=0.0145),多點NPL值為2.39(P=0.0041); D1S196多點NPL值為 1.74(P=0.0255).這與以上36箇傢繫提示連鎖的位點相同.在19箇偏執型傢繫中,5箇微衛星標記位點均未提示連鎖.36箇精神分裂癥傢繫的6號染色體分析髮現,除19箇偏執型精神分裂癥傢繫參數連鎖分析在隱性模式下D6S289位點單點HLOD值為1.26(α=0.40),多點HLOD值為1.12(α=0.38)和非參數連鎖分析在D6S289位點單點NPL值為1.52(P=0.0402),多點NPL值為1.92(P=0.0206)之外,36箇精神分裂癥傢繫總體分析和其中17箇未分化型傢繫分型分析的結果顯示8箇微衛星標記位點均未提示有連鎖.結論 在染色體1q23.3 和1q24.2區域可能存在與中國河南省未分化型精神分裂癥相關的易感基因;在6p23區域可能存在與偏執型精神分裂癥相關的易感基因.
목적 탐토중국인군중정신분렬증아형여1호염색체장비1q21-25화6호염색체단비6p21-25역감기인위점적상관성.방법 재염색체1q21-25구역중선택5개미위성표기화6p21-25구역중선택8개미위성표기대36개래자중국하남성적정신분렬증가계(19개편집형화17개미분화형)중적242개개체진행기인분형급삼수화비삼수련쇄분석.결과 36개정신분렬증가계적1호염색체삼수분석시,재현성유전모식하,D1S484득도다점이질성대수우세기분법(heterogeneity Log of odds score method,HLOD)치위1.33 (α=0.38).비삼수분석시,재D1S484득도다점비삼수련쇄(nonparametric linkage,NPL)치위1.89(P=0.0188);D1S2878단점NPL치위2.11(P=0.0111),다점NPL치위2.41(P=0.0053);D1S196다점NPL치위1.59(P=0.0383).제시이상3개위점존재련쇄.재17개미분화형가계중,D1S484다점NPL치위1.60(P=0.0367);D1S2878단점 NPL치위1.95(P=0.0145),다점NPL치위2.39(P=0.0041); D1S196다점NPL치위 1.74(P=0.0255).저여이상36개가계제시련쇄적위점상동.재19개편집형가계중,5개미위성표기위점균미제시련쇄.36개정신분렬증가계적6호염색체분석발현,제19개편집형정신분렬증가계삼수련쇄분석재은성모식하D6S289위점단점HLOD치위1.26(α=0.40),다점HLOD치위1.12(α=0.38)화비삼수련쇄분석재D6S289위점단점NPL치위1.52(P=0.0402),다점NPL치위1.92(P=0.0206)지외,36개정신분렬증가계총체분석화기중17개미분화형가계분형분석적결과현시8개미위성표기위점균미제시유련쇄.결론 재염색체1q23.3 화1q24.2구역가능존재여중국하남성미분화형정신분렬증상관적역감기인;재6p23구역가능존재여편집형정신분렬증상관적역감기인.
Objective To investigate the relationship of susceptibility loci in chromosomes 1q21-25 and 6p21-25 and schizophrenia subtypes in Chinese population. Methods A genomic scan and parametric and non-parametric analyses were performed on 242 individuals from 36 schizophrenia pedigrees, including 19 paranoid schizophrenia and 17 undifferentiated schizophrenia pedigrees, from Henan province of China using 5 microsatellite markers in the chromosome region 1q21-25 and 8 microsatellite markers in the chromosome region 6p21-25, which were the candidates of previous studies. All affected subjects were diagnosed and typed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revised (DSM-Ⅳ-TR; American Psychiatric Association, 2000). All subjects signed informed consent. Results In chromosome 1, parametric analysis under the dominant inheritance mode of all 36 pedigrees showed that the maximum multi-point heterogeneity Log of odds score method (HLOD) score was 1.33 (α=0.38). The non-parametric analysis and the single point and multi-point nonparametric linkage (NPL) scores suggested linkage at D1S484, D1S2878, and D1S196. In the 19 paranoid schizophrenias pedigrees, linkage was not observed for any of the 5 markers. In the 17 undifferentiated schizophrenia pedigrees, the multi-point NPL score was 1.60 (P=0.0367) at D1S484. The single point NPL score was 1.95 (P=0.0145) and the multi-point NPL score was 2.39 (P=0.0041) at D1S2878. Additionally, the multi-point NPL score was 1.74 (P=0.0255) at D1S196. These same three loci showed suggestive linkage during the integrative analysis of all 36 pedigrees. In chromosome 6, parametric linkage analysis under the dominant and recessive inheritance and the non-parametric linkage analysis of all 36 pedigrees and the 17 undifferentiated schizophrenia pedigrees, linkage was not observed for any of the 8 markers. In the 19 paranoid schizophrenias pedigrees, parametric analysis showed that under recessive inheritance mode the maximum single-point HLOD score was 1.26 (α=0.40) and the multi-point HLOD was 1.12 (α=0.38) at D6S289 in the chromosome 6p23. In nonparametric analysis, the single-point NPL score was 1.52 (P=0.0402) and the multi-point NPL score was 1.92 (P=0.0206) at D6S289. Conclusion Susceptibility genes correlated with undifferentiated schizophrenia pedigrees from D1S484, D1S2878, D1S196 loci, and those correlated with paranoid schizophrenia pedigrees from D6S289 locus are likely present in chromosome regions 1q23.3 and 1q24.2, and chromosome region 6p23, respectively.
