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Coagulation factor Ⅸ mutant mouse embryonic stem cell gene targeting vector

emaCDK · Ketter [in8RP · Iis, f. . Missensemutationnodevolut ~ onacy ~ nservationofaminoacids} evidencethatmanyoftheaminoacidsin [actorfunctionasspacerelementsAR1JHumGeRet. 1991,49 (4) | 8208385 Daixu Ming, Xue Hong,[link widoczny dla zalogowanych], Yang Hua, et al. Gene targeting replacement vector and applied research. Second Military Medical University, 1998.19 (1) r5-8.6LinHF, MaedaN. SmithiesO, eta1. Acoagulationfactor Ⅸ dificiemmo ~ semodelforhumanhemophltiaBB 【0od. 1997,[link widoczny dla zalogowanych],90 (1) '3962-39667WangL, ZoppeM-HackengTM, alA [actor Ⅸ deficientmD ~ semodelrhemophiliaBgenetherapyProcNatlAcedSciUSA, l997.94 (21) · 1l563-ll566.8GLanne [[iF. GreenPM, SommerSS1 mouth. Haemophi [iaB (sixeditlon) & databaseofpointmutationsandshortadditionsandde [etlons. NucleicAcidsRes, 1996,24 (1) i03. i18.9GiantzelliF. GreenPM, Somnm ~ ss, mouth lHaemophiSaBdatabaseoEpointmutatio ~ andshortadditio ~ anddeletions-eighteditionNucleieAcidsRes, 1998,26 (1) 26526810Hsaeh children. Clinica 【protoc0] ofhumangenerr & nsferrhaemophiliaHumGThe, 1992,3543552. (L received ellipsoid :1999-OZ-i7 Revised; i999-06-05) (This edit Liu barnyard) 47, XYY syndrome associated with Down syndrome offspring Sun Shumin Hu Xiangming Li Shi Shurong rank first in Jen licenser male, 27 years old. Down syndrome in sub-clinically suspicious because the line of genetic counseling and chromosome examination. At the same time taking the proband, children and the wife's elbow vein 05m [, line trace method chromosome in peripheral blood, G-banding karyotype analysis + microscope after each case was 30 points off cell division phase. 30 proband cells Karyotype 47, XYY, two Y chromosome morphology similar to the long arm stained. Size of the chromosome are with the first phase of the unit l5: 067000 Hebei Chengde Medical College Clinical Research Institute of Clinical cells undergoing genetic genetics near. For large Y chromosome examination Jian proband height l84cm, athletic, rough facial skin, temperament alone provision, normal intelligence and no violence. Children two years old, Down's syndrome face pits, mental retardation. 4,5 means that the right hand well, male genitalia,[link widoczny dla zalogowanych], chromosomes edge type was 46,[link widoczny dla zalogowanych], XY + a 21, + t (2l; 21), Y chromosome Y chromosome is also large. His wife's intelligence and chromosomes were normal. Discussion 47. XYY syndrome is a super-edge-type Y a + in the formation of such chromosome mutations occurred mostly new, the sperm cells blocked at the second meiosis proficient level caused by the normal egg. Super Y normal offspring syndrome and super edge-based opportunities for each occurrence of Y-type edge 50 pedigree progeny of the same chromosome and gather 【Robertsonian translocation type trisomy 21 =. Down syndrome karyotype of this total accounted for 48% of the karyotypes of children with new genetic from non-double, which causes the double-Y chromosome and his father is not clear whether it is related. Big Y men can be seen clinically appear in their offspring cases of trisomy 2l. It can not rule out the large Y chromosome in which the influence and role (the closing protracted :1998-1228 Revised :199905-22) (This edit Liu Ping)
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