Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1

Autor: Jacek Pilch, Maria Sąsiadek, Piotr S. Iwanowski, Marcella Zollino, Alina T. Midro, Maciej Kurpisz, Ewa Wiland, Barbara Panasiuk, Marina Murdolo, Robert Śmigiel
Jazyk: angličtina
Rok vydání: 2015
Předmět:
0301 basic medicine
Adult
Male
Heterozygote
Chromosome Breakpoints
Genetic Counseling
Trisomy
030105 genetics & heredity
Biology
Settore MED/03 - GENETICA MEDICA
Translocation
Genetic
Chromosome segregation
03 medical and health sciences
0302 clinical medicine
Meiosis
Chromosome Segregation
Obstetrics and Gynaecology
medicine
Genetics
Humans
Genetics(clinical)
Wolf–Hirschhorn syndrome
Genetics (clinical)
Meiotic segregation pattern
In Situ Hybridization
Fluorescence
030219 obstetrics & reproductive medicine
Wolf-Hirschhorn Syndrome
Breakpoint
Obstetrics and Gynecology
Karyotype
General Medicine
medicine.disease
Chromosome translocations
Spermatozoa
Pedigree
FISH mapping
Reproductive Medicine
Karyotyping
Female
Reciprocal chromosome translocation
Chromosomes
Human
Pair 4
Pedigree segregation analysis
Developmental Biology
Zdroj: Journal of Assisted Reproduction and Genetics
ISSN: 1573-7330
1058-0468
Popis: Purpose The purpose of this study was to compare meiotic segregation in sperm cells from two carriers with t(4;8)(p16;p23.1) reciprocal chromosome translocations (RCTs), differing in localization of the breakpoint positions at the 4p subband—namely, 4p16.3 (carrier 1) and 4p16.1 (carrier 2)—and to compare data of the pedigree analyses performed by direct method. Methods Three-color fluorescent in situ hybridization (FISH) on sperm cells and FISH mapping for the evaluation of the breakpoint positions, data from pedigrees, and direct segregation analysis of the pedigrees were performed. Results Similar proportions of normal/balanced and unbalanced sperm cells were found in both carriers. The most common was an alternate type of segregation (about 52 % and about 48 %, respectively). Unbalanced adjacent I and adjacent II karyotypes were found in similar proportions about 15 %. The direct segregation analysis (following Stengel-Rutkowski) of the pedigree of carriers of t(4;8)(p16.1;p23.1) was performed and results were compared with the data of the pedigree segregation analysis obtained earlier through the indirect method. The probability of live-born progeny with unbalanced karyotype for carriers of t(4;8)(p16.1;p23.1) was moderately high at 18.8 %—comparable to the value obtained using the indirect method for the same carriership, which was 12 %. This was, however, markedly lower than the value of 41.2 % obtained through the pedigree segregation indirect analysis estimated for carriers of t(4;8)(p16.3;p23.1), perhaps due to the unique composition of genes present within the 4p16.1–4p 16.3 region. Conclusions Revealed differences in pedigree segregation analysis did not correspond to the very similar profile of meiotic segregation patterns presented by carrier 1 and carrier 2. Most probably, such discordances may be due to differences in embryo survival rates arising from different genetic backgrounds.
Databáze: OpenAIRE
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