Meiotic segregation analysis of reciprocal translocations both in sperms and blastomeres

2006 ◽  
Vol 140A (10) ◽  
pp. 1074-1082 ◽  
Author(s):  
Tahsin Yakut ◽  
Nesrin Ercelen ◽  
Hasan Acar ◽  
Yalçın Kimya ◽  
Unal Egeli
Keyword(s):  
Segregation Analysis ◽  
Meiotic Segregation ◽  
Reciprocal Translocations

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

2014 ◽  
Vol 59 (12) ◽  
pp. 667-674 ◽  
Author(s):  
Alina Teresa Midro ◽  
Barbara Panasiuk ◽  
Beata Stasiewicz-Jarocka ◽  
Marta Olszewska ◽  
Ewa Wiland ◽  
...  
Keyword(s):  
Pregnancy Outcomes ◽  
Segregation Analysis ◽  
Meiotic Segregation

der(4)t(Y;4): Three-generation transmission and sperm meiotic segregation analysis

2011 ◽  
Vol 155 (5) ◽  
pp. 1157-1161 ◽  
Author(s):  
Miluse Vozdova ◽  
Vera Horinova ◽  
Vendula Wernerova ◽  
Romana Skalikova ◽  
Roman Rybar ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Meiotic Segregation

Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier

2011 ◽  
Vol 95 (7) ◽  
pp. 2433.e17-2433.e22 ◽  
Author(s):  
Franck Pellestor ◽  
Jacques Puechberty ◽  
Anja Weise ◽  
Geneviève Lefort ◽  
Tal Anahory ◽  
...  
Keyword(s):  
Direct Analysis ◽  
Meiotic Segregation ◽  
Reciprocal Translocations

scholarly journals Meiotic Segregation Analysis of RB1 Alleles in Retinoblastoma Pedigrees by Use of Single-Sperm Typing

2000 ◽  
Vol 66 (1) ◽  
pp. 167-175 ◽  
Author(s):  
Anne Girardet ◽  
Mary Sara McPeek ◽  
Esther P. Leeflang ◽  
Francis Munier ◽  
Norman Arnheim ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Meiotic Segregation ◽  
Sperm Typing

Analysis of chromosome segregation in reciprocal translocation carriers

2020 ◽  
pp. 16-18
Author(s):  
З.Н. Тонян ◽  
И.Л. Пуппо ◽  
А.Ф. Сайфитдинова ◽  
Ю.А. Логинова ◽  
О. Г. Чиряева ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Chromosome Segregation ◽  
Birth Defects ◽  
Reciprocal Translocation ◽  
Spontaneous Abortions ◽  
Meiotic Segregation ◽  
Cleavage Stage ◽  
Reciprocal Translocations ◽  
Recurrent Spontaneous Abortions ◽  
Increased Risk

Аутосомные реципрокные транслокации (АРТ) приводят к повышенному риску образования несбалансированных гамет вследствие патологической сегрегации хромосом в мейозе у носителей. В настоящей статье приведены результаты анализа типов сегрегации для 26 АРТ, а также определены теоретически возможные варианты сегрегации хромосом. В 73% случаев у носителей АРТ в более, чем 50% бластомеров наблюдалось совпадение теоретического и детектируемого типов сегрегации. Полученные данные можно использовать для оптимизации персонализированного медико-генетического консультирования семей, где один из супругов является носителем АРТ, и имеющих репродуктивные проблемы, высокий риск неразвивающейся беременности и/или рождения ребенка с хромосомной патологией. Autosomal reciprocal translocations (ART) lead to an increased risk of imbalanced gametes formation due to pathological meiotic segregation. Segregation type was analyzed and theoretical segregation pattern was determined in 26 cleavage stage embryos in this article. A coincidence of theoretical and detectable segregation types was observed in more than 50 % of blastomeres in 73 % of cases. The data obtained may be used for personalized genetic counseling in families with high risks of recurrent spontaneous abortions, infertility or children with birth defects due to ART.

scholarly journals Mapping a Telomere Using the Translocation eT1(III;V) in Caenorhabditis elegans

Genetics ◽  
1998 ◽  
Vol 150 (3) ◽  
pp. 1059-1066
Author(s):  
K A Adames ◽  
Jocelyn Gawne ◽  
Chantal Wicky ◽  
Fritz Müller ◽  
Ann M Rose
Keyword(s):  
Caenorhabditis Elegans ◽  
Reciprocal Translocation ◽  
Dark Spot ◽  
Meiotic Segregation ◽  
Wild Type ◽  
Reciprocal Translocations ◽  
C Elegans ◽  
Embryonic Arrest ◽  
Telomere Probe ◽  
Left Portion

Abstract In Caenorhabditis elegans, individuals heterozygous for a reciprocal translocation produce reduced numbers of viable progeny. The proposed explanation is that the segregational pattern generates aneuploid progeny. In this article, we have examined the genotype of arrested embryonic classes. Using appropriate primers in PCR amplifications, we identified one class of arrested embryo, which could be readily recognized by its distinctive spot phenotype. The corresponding aneuploid genotype was expected to be lacking the left portion of chromosome V, from the eT1 breakpoint to the left (unc-60) end. The phenotype of the homozygotes lacking this DNA was a stage 2 embryonic arrest with a dark spot coinciding with the location in wild-type embryos of birefringent gut granules. Unlike induced events, this deletion results from meiotic segregation patterns, eliminating complexity associated with unknown material that may have been added to the end of a broken chromosome. We have used the arrested embryos, lacking chromosome V left sequences, to map a telomere probe. Unique sequences adjacent to the telomeric repeats in the clone cTel3 were missing in the arrested spot embryo. The result was confirmed by examining aneuploid segregants from a second translocation, hT1(I;V). Thus, we concluded that the telomere represented by clone cTel3 maps to the left end of chromosome V. In this analysis, we have shown that reciprocal translocations can be used to generate segregational aneuploids. These aneuploids are deleted for terminal sequences at the noncrossover ends of the C. elegans autosomes.

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