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首页> 外文期刊>Balkan journal of medical genetics: BJMG >ANALYSIS OF MEIOTIC SEGREGATION PATTERNS AND INTERCHROMOSOMAL EFFECTS IN SPERM FROM 13 ROBERTSONIAN TRANSLOCATIONS
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ANALYSIS OF MEIOTIC SEGREGATION PATTERNS AND INTERCHROMOSOMAL EFFECTS IN SPERM FROM 13 ROBERTSONIAN TRANSLOCATIONS

机译：从13个罗伯逊易位的精子中的减数分裂偏析模式和间同胞组成效应分析

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摘要

The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was to analyze the segregation of the ROB translocations in 13 male carriers, and to verify a possible inter-chromosomal effect (ICE) of the ROB translocation on chromosomes 18, X, and Y. Thirteen male patients were included in the study. Multicolor fluorescent in situ hybridization (FISH) was used to analyze chromosomes 13, 14, 15, 21, 22, 18, X and Y in sperm. Among the heterozygous ROB translocation carriers, the frequency of normal/balanced spermatozoa resulting from alternate segregation varied between 70.4 and 85.2%. The frequency of unbalanced spermatozoa resulting from adjacent segregation varied between 14.8 and 29.6%. Increased frequencies of aneuploidy for a sex chromosome were found in 10 ROB translocation carriers (P2-P8, P10-P12). Increased frequencies of aneuploidy for chromosome 18 were found in10 ROB translocation carriers (P3-P9, P11-P13). In addition, increased frequencies of diploid were found in 11 ROB translocation carriers (P2-P9, P11-P13). Among the homozygous ROB translocation carriers, the rate of balanced spermatozoa was 99.7% and the frequency of unbalanced spermatozoa was 0.3%. However, the frequencies of aneuploidy for a sex chromosome and chromosome 18 were normal. Despite the high number of normal/balanced frequencies, there remained many unbalanced spermatozoa resulting from alternate segregation. The ROB translocation carriers may be at an increased risk for ICE. Robertsonian translocation homozygosity could be seen as a potential speciation in humans with 44 chromosomes.
机译：新生婴儿的罗伯利昂（Rob）易位的频率大约是1000中的一个。罗伯逊易位是一种不寻常的染色体重排，由两个特定的染色体连接在一起。该研究的目的是分析13个雄性载体中Rob易位的偏析，并验证染色体18，x和Y.13，x和Y的罗布易位的可能间染色体效果（冰）研究。用于分析精子的染色体13,14,15,21,22,18，x和y的多色荧光荧光。在杂合的Rob易位载体中，由替代偏析产生的正常/平衡精子的频率在70.4和85.2％之间变化。由相邻偏析产生的不平衡精子的频率在14.8和29.6％之间变化。在10个Rob易位载体中发现了性染色体的非倍差频率增加（P2-P8，P10-P12）。发现染色体18的非倍差频率增加（P3-P9，P11-P13）。此外，在11个Rob易位载体中发现了增加的二倍体频率（P2-P9，P11-P13）。在纯合的Rob易位载体中，平衡的精子率为99.7％，不平衡精子的频率为0.3％。然而，性染色体和染色体18的非整倍性的频率是正常的。尽管正常/平衡频率较多，但仍有许多不平衡的精子，由替代偏析产生。 Rob易位载体可能是冰的增加的风险。罗伯逊易位纯合子可以被视为具有44条染色体的人类的潜在形态。

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