Department of Genetics and Reproduction, Veterinary Research Institute, Brno, Czech Republic.
Fertil Steril. 2011 Jul;96(1):e66-70. doi: 10.1016/j.fertnstert.2011.04.042. Epub 2011 May 11.
To compare the sperm meiotic segregation profiles in two men from families with similar t(7;10) translocations and determine the frequency of unbalanced sperm and preimplantation embryos in one couple.
Analysis of sperm nuclei and blastomeres by fluorescence in situ hybridization (FISH).
Research institute.
PATIENT(S): Carriers of balanced translocations t(7;10)(q34;q24) and t(7;10)(q36;q24.3).
INTERVENTION(S): Multicolor FISH using probes for chromosomes 7, 10, 8, 18, 21, X, and Y on sperm and preimplantation genetic diagnosis (PGD) of blastomeres.
MAIN OUTCOME MEASURE(S): Frequencies of meiotic segregation products in sperm and blastomeres and sperm aneuploidy of chromosomes 8, 18, 21, X, and Y.
RESULT(S): Similar meiotic segregation patterns, with preferential alternate segregation (50.6% in patient P1, 48.1% in P2) followed by adjacent 1, adjacent 2 and 3:1 segregations, were observed in the sperm of the two carriers. An interchromosomal effect on the sex chromosomes was found when compared with disomy frequencies reported in control donors. The results of preimplantation genetic diagnosis in the first couple are roughly consistent with the sperm analysis results.
CONCLUSION(S): Carriers of similar translocations show similar segregation profiles. The in vitro fertilization method accompanied by preimplantation genetic diagnosis increases the chance of translocation carriers fathering a healthy child.
比较两个 t（7；10）易位家族中男性的精子减数分裂分离谱，并确定一对夫妇中不平衡精子和胚胎前体的频率。
通过荧光原位杂交（FISH）分析精子核和卵裂球。
研究所。
平衡易位 t（7；10）（q34；q24）和 t（7；10）（q36；q24.3）的携带者。
使用针对染色体 7、10、8、18、21、X 和 Y 的多色 FISH 探针对精子和胚胎前体进行遗传诊断（PGD）。
精子和卵裂球减数分裂产物的频率以及染色体 8、18、21、X 和 Y 的精子非整倍性。
在两个携带者的精子中观察到相似的减数分裂分离模式，优先交替分离（患者 P1 为 50.6%，P2 为 48.1%），其次是相邻 1、相邻 2 和 3:1 分离。与对照组供体报告的二倍体频率相比，发现性染色体存在染色体间效应。第一对夫妇的胚胎前体遗传诊断结果与精子分析结果大致一致。
相似易位的携带者表现出相似的分离模式。体外受精方法结合胚胎前体遗传诊断增加了携带者生育健康孩子的机会。
