Detection of mosaic and non-mosaic chromosome abnormalities in 6- to 8-day-old human blastocysts

被引:40
作者
Clouston, HJ
Fenwick, J
Webb, AL
Herbert, M
Murdoch, A
Wolstenholme, J
机构
[1] UNIV NEWCASTLE UPON TYNE, DEPT HUMAN GENET, NEWCASTLE UPON TYNE NE2 4AA, TYNE & WEAR, ENGLAND
[2] ROYAL VICTORIA INFIRM, CTR REPROD MED, NEWCASTLE UPON TYNE NE1 4LP, TYNE & WEAR, ENGLAND
关键词
D O I
10.1007/s004390050581
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A reliable technique has been developed for the production of good quality G-banded chromosome preparations from 6- to 8-day-old human blastocysts (20-800 cell stage) from an in vitro fertilization programme. The technique involves a thymidine cell division synchronization step to reduce the exposure time to colcemid, in conjunction with a simple 70% acetic acid disaggregation procedure to produce discrete metaphases for analysis. Of 105 blastocysts processed by this technique, 9 were lost during handling and 10 showed no dividing cells. The remaining 86 produced useful separate metaphases with a mean mitotic activity of 6.5%. A full G-banded karyotype was obtained from 1-6 cells in 55 blastocysts (64%), incomplete G-banded analysis but with full information of ploidy was obtained from 18 blastocysts (21%), with 13 (15%) producing no useful cytogenetic results. Abnormalities observed included polyploidy, diploid/polyploid mosaicism, non-mosaic trisomy 16 (2 cases), 46,Xdel(X)-(q21)/46,XX (1 case) and several single cells with trisomies or structural anomalies in other-wise normal blastocysts. Variable levels of structural chromosome damage, with apparent interchanges, chromosome branching and anomalous chromatid pairing were also seen.
引用
收藏
页码:30 / 36
页数:7
相关论文
共 24 条
[21]   AN AUDIT OF TRISOMY-16 IN MAN [J].
WOLSTENHOLME, J .
PRENATAL DIAGNOSIS, 1995, 15 (02) :109-121
[22]  
Wolstenholme J, 1996, PRENATAL DIAG, V16, P511, DOI 10.1002/(SICI)1097-0223(199606)16:6<511::AID-PD904>3.0.CO
[23]  
2-8
[24]   CYTOGENETICS OF HUMAN OOCYTES, ZYGOTES, AND EMBRYOS AFTER INVITRO FERTILIZATION [J].
ZENZES, MT ;
CASPER, RF .
HUMAN GENETICS, 1992, 88 (04) :367-375