scholarly journals The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Sigrid Fuchs ◽  
Jasmin Lisfeld ◽  
Stefanie Kankel ◽  
Luisa Person ◽  
Thomas Liehr

AbstractChromosomal heteromorphisms (CHMs) are currently largely disregarded in human genetic diagnostics. One exception is der(Y)t(Y;acro)(q12;p1?2), which has at least been mentioned in karyotypes and discussed in reports. This derivative is frequently observed in healthy males with idiopathic infertility, which is not uncommon for CHMs. Here, we present the first systematic fluorescence in situ hybridization (FISH)-based study of 7 carriers of der(Y)t(Y;acro)(q12;p1?2). Specific probes for 15p11.2 (D15Z1) and 22p11.2 (D22Z4) were applied to answer the question of whether either of the short arms may be involved in the formation of the derivative Y-chromosome. In 6 out of 7 cases, specific staining was achieved using the D15Z1 probe, while the derivative acrocentric chromosomal region was not positive for D22Z4 in any of the 7 cases.In conclusion, this study implies that the acrocentric chromosomal region is derived from chromosome 15 in the majority of cases with der(Y)t(Y;acro)(q12;p1?2).

1999 ◽  
Vol 187 (3) ◽  
pp. 285-289 ◽  
Author(s):  
Yukihito Fukada ◽  
Takehiko Yasumizu ◽  
Atsuhito Amemiya ◽  
Keiko Kohno ◽  
Motoi Takizawa ◽  
...  

Chromosoma ◽  
1993 ◽  
Vol 102 (8) ◽  
pp. 546-552 ◽  
Author(s):  
Ron Hochstenbach ◽  
Monique Wilbrink ◽  
Ron Suijkerbuijk ◽  
Wolfgang Hennig

Reproduction ◽  
2003 ◽  
pp. 317-325 ◽  
Author(s):  
I Parrilla ◽  
JM Vazquez ◽  
M Oliver-Bonet ◽  
J Navarro ◽  
J Yelamos ◽  
...  

Successful evaluation of X- and Y-chromosome-bearing sperm separation technology using flow cytometry-cell sorter is of great importance. Fluorescence in situ hybridization (FISH), which allows for the detection of specific nucleic acid sequences on morphologically preserved spermatozoa, is an ideal method for quantitatively and qualitatively assessing the purity of sorted sperm samples. In this study specific pig DNA direct probes for small regions of chromosomes 1 and Y were used. Chromosome 1 was labelled in green and used as internal control to detect a lack of hybridization, whereas chromosome Y was labelled in red. Nick translation was used as the labelling method for the preparation of these probes. Spermatozoa, unsorted and sorted for high and low Y-chromosome purity from ejaculates of five boars, were fixed on slides and two-colour direct FISH was performed for chromosomes 1 and Y. About 500 non-sorted and 200 sorted spermatozoa per sample were scored. The proportion of Y-chromosome-bearing spermatozoa was determined by the presence of a red fluorescent signal on the sperm head and the proportion of X-chromosome-bearing spermatozoa was determined by subtraction. The efficiency of the hybridization procedure was established as near 98% on sorted and unsorted samples. The results of this study confirm that direct FISH using specific pig DNA probes labelled by nick translation provides a useful tool for laboratory validation of sperm separation by flow sorting technology. Moreover, the ease of nick translation and the quality of the fluorescent signal obtained using this method makes this procedure the most appropriate method for labelling pig DNA probes to be used for direct FISH on pig spermatozoa.


1999 ◽  
Vol 52 (6) ◽  
pp. 1043-1054 ◽  
Author(s):  
J. Kobayashi ◽  
T. Kohsaka ◽  
H. Sasada ◽  
M. Umezu ◽  
E. Sato

Genome ◽  
2005 ◽  
Vol 48 (5) ◽  
pp. 931-936 ◽  
Author(s):  
Koichi Sakamoto ◽  
Tomoko Abe ◽  
Tomoki Matsuyama ◽  
Shigeo Yoshida ◽  
Nobuko Ohmido ◽  
...  

Male-associated DNA sequences were analyzed in Cannabis sativa L. (hemp), a dioecious plant with heteromorphic sex chromosomes. DNA was isolated from male and female plants and subjected to random amplified polymorphic DNA analysis. Of 120 primers, 17 yielded 400 to 1500-bp fragments detectable in male, but not female, plants. These fragments were cloned and used as probes in gel-blot analysis of genomic DNA. When male and female DNA was hybridized with 2 of these male-specific fragments, MADC(male-associated DNA sequences in C. sativa)3 and MADC4, particularly intense bands specific to male plants were detected in addition to bands common to both sexes. The MADC3 and MADC4 sequences were shown to encode gag/pol polyproteins of copia-like retrotransposons. Fluorescence in situ hybridization with MADC3 and MADC4 as probes revealed a number of intense signals on the Y chromosome as well as dispersed signals on all chromosomes. The gel-blot analysis and fluorescence in situ hybridization results presented here support the hypothesis that accumulation of retrotransposable elements on the Y chromosome might be 1 cause of heteromorphism of sex chromosomes.Key words: Cannabis sativa, FISH, RAPD, retrotransposon, sex chromosome.


Reproduction ◽  
2001 ◽  
pp. 541-546 ◽  
Author(s):  
W Rens ◽  
F Yang ◽  
G Welch ◽  
S Revell ◽  
PC O'Brien ◽  
...  

X and Y chromosome paints were developed from sorted yak chromosomes for sexing cattle spermatozoa. Clear hybridization signals were obtained for every spermatozoon using a modified sperm decondensation protocol and fluorescence in situ hybridization (FISH). The procedure was evaluated using the established Beltsville sperm sexing technology, which separates spermatozoa by flow cytometry into X- and Y-bearing fractions. Close agreement was found between the assessment of sperm separation by flow cytometry and by FISH with the X-Y paint set. The FISH method is a simple, reliable and robust procedure for assessing the effectiveness of separation of X and Y spermatozoa.


2019 ◽  
Vol 144 (7) ◽  
pp. 863-868
Author(s):  
Rumeal D. Whaley ◽  
Rachel E. Dougherty ◽  
Liang Cheng ◽  
Thomas M. Ulbright

Context.— Gestational choriocarcinoma usually presents during the reproductive years, typically within 1 year of pregnancy, although presentation remote from pregnancy also occurs and may cause confusion with other tumors, including choriocarcinoma of germ cell origin and somatic carcinomas with choriocarcinomatous differentiation. It is important to separate these tumors for treatment and prognostic reasons. Objective.— To assess the utility of fluorescence in situ hybridization for the X and Y chromosome centromeres in determining the gestational origin of clinically ambiguous extrauterine choriocarcinomas in women. Design.— A review of female patients with extrauterine choriocarcinomas who had no evidence of prior gestational trophoblastic disease was performed. Samples were analyzed by fluorescence in situ hybridization for the X and Y chromosome centromeres using standard methodologies. Results.— Five cases met the criteria, all of which displayed trophoblastic cells and necrosis. Three cases (60%) had Y chromosomes by fluorescence in situ hybridization, which confirmed gestational origin. Although the 2 cases without a Y chromosome would ordinarily require molecular genotyping for paternal genetic material to establish gestational origin, in one of these cases a subsequent recurrence of yolk sac tumor allowed confirmation of its mediastinal origin. Conclusions.— Fluorescence in situ hybridization for detection of the X and Y chromosome centromeres is an effective screening test for gestational choriocarcinoma. It provided a definitive diagnosis of metastatic gestational choriocarcinoma in 3 of 5 potential cases that lacked a clinical history of gestational trophoblastic disease. An additional benefit is that more laboratories have the capability to perform fluorescence in situ hybridization than can perform molecular genotyping for definitive diagnosis.


Author(s):  
Gordon Dewald ◽  
Richard Stallard ◽  
A. Al Saadi ◽  
Susan Arnold ◽  
Patricia I. Bader ◽  
...  

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