Meiotická segregace a interchromosomální efekt u nositelů translokace t(11;18) studované metodou Sperm FISH

Kód výsledku v IS VaVaI

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Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18)

Popis výsledku v původním jazyce

Balanced translocations are associated with infertility, spontaneous abortions and birth defects. We report the analysis, by multicolour fluorescence in situ hybridization (FISH), of meiotic segregation and aneuploidy of chromosomes X, Y, 7, 8 and 21 insperm from three carriers of two different t(11;18). The prevalence of alternate segregation followed by adjacent 1, adjacent 2, and 3:1 was observed in all three patients. Two carriers of the same translocation differed only in the frequency of adjacent2 segregation. The carrier of the other translocation showed significantly higher frequency of alternate and less adjacent 1 and 3:1 segregation products. An increased frequency of XY, YY and diploid sperm was detected in the group of translocation carriers compared to controls. This was caused by elevated frequencies of disomy and diploidy in two of our carriers. The incidence of abnormal gametes varies in the individual carriers even if the same chromosomes are included in the translo

Název v anglickém jazyce

Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18)

Popis výsledku anglicky

Balanced translocations are associated with infertility, spontaneous abortions and birth defects. We report the analysis, by multicolour fluorescence in situ hybridization (FISH), of meiotic segregation and aneuploidy of chromosomes X, Y, 7, 8 and 21 insperm from three carriers of two different t(11;18). The prevalence of alternate segregation followed by adjacent 1, adjacent 2, and 3:1 was observed in all three patients. Two carriers of the same translocation differed only in the frequency of adjacent2 segregation. The carrier of the other translocation showed significantly higher frequency of alternate and less adjacent 1 and 3:1 segregation products. An increased frequency of XY, YY and diploid sperm was detected in the group of translocation carriers compared to controls. This was caused by elevated frequencies of disomy and diploidy in two of our carriers. The incidence of abnormal gametes varies in the individual carriers even if the same chromosomes are included in the translo

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2008

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Human Reproduction

ISSN

0268-1161

e-ISSN

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Svazek periodika

23

Číslo periodika v rámci svazku

3

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

8

Strana od-do

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Kód UT WoS článku

000253746900017

EID výsledku v databázi Scopus

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