scholarly journals The establishment and application of preimplantation genetic haplotyping in embryo diagnosis for reciprocal and Robertsonian translocation carriers

2017 ◽  
Vol 10 (1) ◽  
Author(s):  
Shuo Zhang ◽  
Caixia Lei ◽  
Junping Wu ◽  
Jing Zhou ◽  
Haiyan Sun ◽  
...  
2018 ◽  
Vol 38 (8) ◽  
pp. 547-554 ◽  
Author(s):  
Jing Wang ◽  
Yanhong Zeng ◽  
Chenhui Ding ◽  
Bin Cai ◽  
Baomin Lu ◽  
...  

Genetics ◽  
2002 ◽  
Vol 161 (3) ◽  
pp. 1219-1224
Author(s):  
Lara A Underkoffler ◽  
Laura E Mitchell ◽  
A Russell Localio ◽  
Shannon M Marchegiani ◽  
Justin Morabito ◽  
...  

Abstract A Robertsonian translocation results in a metacentric chromosome produced by the fusion of two acrocentric chromosomes. Rb heterozygous mice frequently generate aneuploid gametes and embryos, providing a good model for studying meiotic nondisjunction. We intercrossed mice heterozygous for a (7.18) Robertsonian translocation and performed molecular genotyping of 1812 embryos from 364 litters with known parental origin, strain, and age. Nondisjunction events were scored and factors influencing the frequency of nondisjunction involving chromosomes 7 and 18 were examined. We concluded the following: The frequency of nondisjunction among 1784 embryos (3568 meioses) was 15.9%.Nondisjunction events were distributed nonrandomly among progeny. This was inferred from the distribution of the frequency of trisomics and uniparental disomics (UPDs) among all litters.There was no evidence to show an effect of maternal or paternal age on the frequency of nondisjunction.Strain background did not play an appreciable role in nondisjunction frequency.The frequency of nondisjunction for chromosome 18 was significantly higher than that for chromosome 7 in males.The frequency of nondisjunction for chromosome 7 was significantly higher in females than in males. These results show that molecular genotyping provides a valuable tool for understanding factors influencing meiotic nondisjunction in mammals.


Cells ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 4
Author(s):  
Rafael Kretschmer ◽  
Ricardo José Gunski ◽  
Analía del Valle Garnero ◽  
Thales Renato Ochotorena de Freitas ◽  
Gustavo Akira Toma ◽  
...  

Although cytogenetics studies in cuckoos (Aves, Cuculiformes) have demonstrated an interesting karyotype variation, such as variations in the chromosome morphology and diploid number, their chromosome organization and evolution, and relation with other birds are poorly understood. Hence, we combined conventional and molecular cytogenetic approaches to investigate chromosome homologies between chicken and the smooth-billed ani (Crotophaga ani). Our results demonstrate extensive chromosome reorganization in C. ani, with interchromosomal rearrangements involving macro and microchromosomes. Intrachromosomal rearrangements were observed in some macrochromosomes, including the Z chromosome. The most evolutionary notable finding was a Robertsonian translocation between the microchromosome 17 and the Z chromosome, a rare event in birds. Additionally, the simple short repeats (SSRs) tested here were preferentially accumulated in the microchromosomes and in the Z and W chromosomes, showing no relationship with the constitutive heterochromatin regions, except in the W chromosome. Taken together, our results suggest that the avian sex chromosome is more complex than previously postulated and revealed the role of microchromosomes in the avian sex chromosome evolution, especially cuckoos.


CYTOLOGIA ◽  
2011 ◽  
Vol 76 (1) ◽  
pp. 99-108 ◽  
Author(s):  
Alongklod Tanomtong ◽  
Wanpen Kakampuy ◽  
Suteera Suntararak ◽  
Kuntida Thammarat ◽  
Sarawut Kaewsri ◽  
...  

2010 ◽  
Vol 21 (7-8) ◽  
pp. 377-387 ◽  
Author(s):  
Aabida Saferali ◽  
Soizik Berlivet ◽  
John Schimenti ◽  
Marisa S. Bartolomei ◽  
Teruko Taketo ◽  
...  

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