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
5期
507-510
,共4页
徐华%吴大洲%刘孟黎%叶世辉%王满妮%贺晨%章迪
徐華%吳大洲%劉孟黎%葉世輝%王滿妮%賀晨%章迪
서화%오대주%류맹려%협세휘%왕만니%하신%장적
RHD等位基因%新等位基因%假基因%家系调查
RHD等位基因%新等位基因%假基因%傢繫調查
RHD등위기인%신등위기인%가기인%가계조사
RHD allele%novel allele%pseudogene%family survey
目的 对新发现的2个RHD等位基因进行分型,并对其家系成员进行分型研究.方法 应用单克隆抗体检测Rh血型抗原.对新发现的等位基因再用基因分型技术检测RHD基因型,扩增先证者及家系成员RHD基因10个外显子,作直接测序分析；并用序列特异性引物聚合酶链反应(sequence specific primer-polymerase chain reaction,PCR-SSP)技术检测先证者2的家系成员.结果 2例先证者均为RhD阴性.先证者1测序分析显示为RHD 78 del C,家系调查发现先证者1妹妹的Rh表现型和测序结果与先证者一致；先证者2测序分析为第4外显子520G/A,第8外显子1080始缺失10个碱基,家系调查的测序结果显示先证者的RHD 520 G＞A+1080 del 10基因来源于母亲.2个新的等位基因(RHD 78delC、RHD 520 G＞A+1080 del 10)已被GenBank受理(GQ477180、GU362076).结论 这两个新发现的RHD等位基因为RHD假基因,家系调查显示均可以稳定遗传.
目的 對新髮現的2箇RHD等位基因進行分型,併對其傢繫成員進行分型研究.方法 應用單剋隆抗體檢測Rh血型抗原.對新髮現的等位基因再用基因分型技術檢測RHD基因型,擴增先證者及傢繫成員RHD基因10箇外顯子,作直接測序分析；併用序列特異性引物聚閤酶鏈反應(sequence specific primer-polymerase chain reaction,PCR-SSP)技術檢測先證者2的傢繫成員.結果 2例先證者均為RhD陰性.先證者1測序分析顯示為RHD 78 del C,傢繫調查髮現先證者1妹妹的Rh錶現型和測序結果與先證者一緻；先證者2測序分析為第4外顯子520G/A,第8外顯子1080始缺失10箇堿基,傢繫調查的測序結果顯示先證者的RHD 520 G＞A+1080 del 10基因來源于母親.2箇新的等位基因(RHD 78delC、RHD 520 G＞A+1080 del 10)已被GenBank受理(GQ477180、GU362076).結論 這兩箇新髮現的RHD等位基因為RHD假基因,傢繫調查顯示均可以穩定遺傳.
목적 대신발현적2개RHD등위기인진행분형,병대기가계성원진행분형연구.방법 응용단극륭항체검측Rh혈형항원.대신발현적등위기인재용기인분형기술검측RHD기인형,확증선증자급가계성원RHD기인10개외현자,작직접측서분석；병용서렬특이성인물취합매련반응(sequence specific primer-polymerase chain reaction,PCR-SSP)기술검측선증자2적가계성원.결과 2례선증자균위RhD음성.선증자1측서분석현시위RHD 78 del C,가계조사발현선증자1매매적Rh표현형화측서결과여선증자일치；선증자2측서분석위제4외현자520G/A,제8외현자1080시결실10개감기,가계조사적측서결과현시선증자적RHD 520 G＞A+1080 del 10기인래원우모친.2개신적등위기인(RHD 78delC、RHD 520 G＞A+1080 del 10)이피GenBank수리(GQ477180、GU362076).결론 저량개신발현적RHD등위기인위RHD가기인,가계조사현시균가이은정유전.
Objective To study the seggregation of two novel RHD alleles in Chinese pedigrees.Methods The Rh antigens of the samples were identified by using monoclonal antibodies.The 10 exons of the RHD gene for the 2 probands and their family members were amplified separately and sequenced.The parents of proband 2 were analyzed by sequence specific primer-polymerase chain reaction (SSP-PCR).Results The two probands were RhD negative and the RHD was D/d type.After alignment with the nucleotide sequence in GenBank,a deletion of nucleotide C at position 78 in exon 1 of proband 1 was detected,and her sister also had the deletion,which was confirmed by sequencing.The sequencing results of proband 2 showed a 10 nucleotide deletion in exon 8 as well as a RHD 520 G＞A mutation in exon 4.The results of SSP-PCR and sequencing showed that the proband's mother also carried RHD 520 G＞ A and RHD 1080 del 10 mutation,which was transmitted to proband 2.The sequences of the novel alleles have been submitted to GenBank (accession No.GQ477180 and GU362076).Conclusion The two novel RHD alleles,RHD 78delC and RHD 520 G＞A+1080 del 10,were both pseudo genes and stably transmitted.
