中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
6期
620-625
,共6页
李连永%孙学科%赵群%张立军%李祁伟%王莉莉%高红
李連永%孫學科%趙群%張立軍%李祁偉%王莉莉%高紅
리련영%손학과%조군%장립군%리기위%왕리리%고홍
发育性髋关节发育不良%传递不平衡检验%易感基因%基因定位
髮育性髖關節髮育不良%傳遞不平衡檢驗%易感基因%基因定位
발육성관관절발육불량%전체불평형검험%역감기인%기인정위
developmental dysplasia of the hip%transmission disequilibrium test%susceptibility gene%gene mapping
目的 在染色体17q21区域的D17S1820附近定位发育性髋关节发育不良(developmental dysplasia of the hip,DDH)的易感基因.方法 根据等位基因的数目(≥5)、杂合度(≥0.70)及多态信息含量(≥0.5),在D17S1820附近选择了11个短串联重复序列(short tandem repeat,STR)位点,采用PCR-毛细管电泳的方法,对103个DDH核心家系的309名成员进行基因分型,并进行传递不平衡检验(transmission disequilib rium test,TDT).结果 D17S810和D17S931因不能提供充足的多态信息,未进行TDT检验.其余9个STR多态位点在103个核心家系中的基因型分析结果符合孟德尔遗传模式.TDT检验结果显示,位于两端的D17S1787和D17S787与DDH不存在传递不平衡,而D17S855、D17S858、D17S806、D17S1877、D17S941、D17S752及D17S790与DDH均存在传递不平衡.将DDH易感基因的区域初步定位于D17S855～D17S790之间约11.70 cM的范围内.结论 17号染色体D17S855～D17S790之间约11.70 cM的区域与DDH有关联,在该区域可能存在DDH的易感基因.
目的 在染色體17q21區域的D17S1820附近定位髮育性髖關節髮育不良(developmental dysplasia of the hip,DDH)的易感基因.方法 根據等位基因的數目(≥5)、雜閤度(≥0.70)及多態信息含量(≥0.5),在D17S1820附近選擇瞭11箇短串聯重複序列(short tandem repeat,STR)位點,採用PCR-毛細管電泳的方法,對103箇DDH覈心傢繫的309名成員進行基因分型,併進行傳遞不平衡檢驗(transmission disequilib rium test,TDT).結果 D17S810和D17S931因不能提供充足的多態信息,未進行TDT檢驗.其餘9箇STR多態位點在103箇覈心傢繫中的基因型分析結果符閤孟德爾遺傳模式.TDT檢驗結果顯示,位于兩耑的D17S1787和D17S787與DDH不存在傳遞不平衡,而D17S855、D17S858、D17S806、D17S1877、D17S941、D17S752及D17S790與DDH均存在傳遞不平衡.將DDH易感基因的區域初步定位于D17S855～D17S790之間約11.70 cM的範圍內.結論 17號染色體D17S855～D17S790之間約11.70 cM的區域與DDH有關聯,在該區域可能存在DDH的易感基因.
목적 재염색체17q21구역적D17S1820부근정위발육성관관절발육불량(developmental dysplasia of the hip,DDH)적역감기인.방법 근거등위기인적수목(≥5)、잡합도(≥0.70)급다태신식함량(≥0.5),재D17S1820부근선택료11개단천련중복서렬(short tandem repeat,STR)위점,채용PCR-모세관전영적방법,대103개DDH핵심가계적309명성원진행기인분형,병진행전체불평형검험(transmission disequilib rium test,TDT).결과 D17S810화D17S931인불능제공충족적다태신식,미진행TDT검험.기여9개STR다태위점재103개핵심가계중적기인형분석결과부합맹덕이유전모식.TDT검험결과현시,위우량단적D17S1787화D17S787여DDH불존재전체불평형,이D17S855、D17S858、D17S806、D17S1877、D17S941、D17S752급D17S790여DDH균존재전체불평형.장DDH역감기인적구역초보정위우D17S855～D17S790지간약11.70 cM적범위내.결론 17호염색체D17S855～D17S790지간약11.70 cM적구역여DDH유관련,재해구역가능존재DDH적역감기인.
Objective To map the susceptibility gene of developmental dysplasia of the hip(DDH) in chromosome 17q21 region. Methods According to the number of alleles ( ≥ 5), heterozygosity (≥0. 70)and polymorphic information content (PIC≥ 0.5), 11 STR markers in the 17q21 region were chosen for transmission disequilibrium test (TDT). STR markers were amplified by PCR and genotypes were analyzed by capillary electrophoresis in 103 trio families. TDT was used to locate the susceptibility gene in 17q21 region. Results Because of a low genetic polymorphism, D17S810 and D17S931 loci were removed from the TDT. Transmission disequilibrium was detected at D17S855, D17S858, D17S806, D17S1877,D17S941, D17S752 and D17S790, which overlapped 11. 7 cM in 17q21. However, no transmission disequilibrium was found at D17S1787 and D17S787. Thus, the susceptibility gene for DDH was located in the chromosome region between D17S855 and D17S790. Conclusion The susceptibility gene for DDH is narrowed to an 11.7cM region of 17q21.31-17q22, between STR loci D17S855 and D17S790.
