Cytogenetic analysis of meiotic segregation in sperm from two males heterozygous for reciprocal translocations using PRINS and humster techniques

1997 ◽  
Vol 78 (3-4) ◽  
pp. 202-208 ◽  
Author(s):  
F. Pellestor ◽  
A. Girardet ◽  
L. Coignet ◽  
B. Andréo ◽  
G. Lefort ◽  
...  
2011 ◽  
Vol 95 (7) ◽  
pp. 2433.e17-2433.e22 ◽  
Author(s):  
Franck Pellestor ◽  
Jacques Puechberty ◽  
Anja Weise ◽  
Geneviève Lefort ◽  
Tal Anahory ◽  
...  

Author(s):  
З.Н. Тонян ◽  
И.Л. Пуппо ◽  
А.Ф. Сайфитдинова ◽  
Ю.А. Логинова ◽  
О. Г. Чиряева ◽  
...  

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.


Genetics ◽  
1998 ◽  
Vol 150 (3) ◽  
pp. 1059-1066
Author(s):  
K A Adames ◽  
Jocelyn Gawne ◽  
Chantal Wicky ◽  
Fritz Müller ◽  
Ann M Rose

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.


Genetics ◽  
1980 ◽  
Vol 94 (3) ◽  
pp. 687-700
Author(s):  
James A Birchler

ABSTRACT The alcohol dehydrogenase-I (Adh) locus in maize has been positioned relative to thirteen reciprocal translocations that have breakpoints in the long arm of chromosome I (1L). The methods of GOPINATH and BURNHAM (1956) to produce interstitial segmental trisomy with overlapping translocations and of RAKHA and ROBERTSON (1970) to produce compound B-A translocations were coupled with the co-dominant nature of the ADH isozymes to allow the cytological placement. The results of several crosses are consistent with Adh being in the region of 0.80-0.90 of 1L.—The duplication that results from the overlap of translocations 1-3 (5267) and 2-3 (5242) and that includes Adh was studied with respect to meiotic segregation and pollen transmission. When heterozygous with normal chromosomes, a low level of recombination within the duplicated regions is detectable and the duplication and normals are recovered with equal frequencies through the female. In the pollen, the hyperploid grains cannot compete equally with the euploids in achieving fertilization.—The use of co-dominant heteromultimeric isozymes as genetic markers for the development of a series of interstitial segmental trisomics in maize is discussed.


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

Genome ◽  
1992 ◽  
Vol 35 (5) ◽  
pp. 714-718 ◽  
Author(s):  
B. Kindiger ◽  
S. Hamann

In maize (Zea mays L.), meiotic segregation products of reciprocal translocations are well defined. The predictible meiotic behaviors and products generated by these interchanges allow them to be used as tools to gain basic information in cytogenetics, genetics, and plant breeding. In combining a classic reciprocal translocation with a single B–A chromosome from a tertiary trisomic B–A translocation stock, unique individuals with unusual chromosome karyotypes are generated. In cases where a B–A chromosome was present, the frequency of 3:1 disjunction within the ring of four was increased. In the case of T6–9(5454) + B–6Ld, cytological identification, via root-tip mitosis, was able to identify the specific tertiary trisomic products generated. These karyotypes are predictable and highly repeatable. Such karyotypes may have specific uses in chromosome mapping, chromosome dosage studies, or genetic or molecular investigations.Key words: reciprocal translocations, tertiary trisomes, interchange trisomes, B–A translocations, maize.


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