Relationship between the variations of centromere protein and aneuploid
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Objectives: In order to explore the relation between embryos of aneuploid occurrence and their parents,this paper investigated the variations of CENPs of them.Methods: there are two groups,the test group are chromosome of aneuploid embryos which were been diagnosed had stopped growth and the chromosome of their parents,the compare group are the embryos which are chromosome of normal and the chromosome of their parents,The peripheral blood lymphocyte chromosome specimens were made with the routine chromosomal technique,G-band were developed.useing the technique of immunhitehmisty to get the CENPs.all the cases have whole data of G-band technique.Results : ① The rate of aneuploid chorion chromosome in study group was 44.78%,Among 30 cases with karyotype disorder,12 cases of sex chromosome take 40.00% of the cases.7 cases of 21-trisomy syndrome take 23.33% of the cases.②The test group and the compare group chromosome both have CENPS.And the CENPS of the test group was much lower than the compare group.t = 3.012 P 0.05).the CENPS of the test group was much lower then their paternal group(t = 4.279 P 0.001),No significant difference between the test group and their maternal group.(t = 1.927 P 0.05);The CENPS of the compare group was much lower then their paternal group(t = 3.008 P 0.05),No significant difference between the test group and their maternal group.(t = 1.234 P 0.05).Conclusions: Less CENPS are closely related to aneuploid occurrence,and contents of CENPS may come from the maternal group,in order to offer evidences of the genetics between descendants and their mothersKeywords:
Trisomy
Group B
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Objective:Analysis of variation of chromosome with the body and the relationship between adverse pregnancy.Methods:Of genetic counseling in our hospital,obstetrics and gynecology clinic,there are adverse maternal history of the couple a total of 1374 pairs for peripheral blood lymphocyte culture,chromosome karyotype analysis.Results:Found D,G group chromosomes with 25 cases of physical variation,with a detection rate of 0.91 percent.Simple variation of 23 cases with the body(including the two cases for a couple),with the body variation merged two cases of other chromosomal abnormalities;11 cases with the body increased,accounting for 44 percent,with 14 cases of missing body,accounting for 56%;G Group With the body of chromosome mutation rate 64 percent lower than the D group chromosome mutation rate with 36 percent body.Conclusions:not only with the history of adverse pregnancy-related chromosomal aberrations,and with the body variant also associated,at the same time,D,G group chromosome mutation carriers with the body and his wife,it was entirely possible reproductive chromosome or with the body normal phenotype variation normal baby.
Chromosome analysis
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【Objective】 To analyze the parental origin of the extra 21st chromosome of patients with Down's syndrome(DS) and the correlation between the partial environmental factors and DS. 【Methods】 1)The chromosomal karyotypes of patients and their parents were determined by karyotype analysis technique.2)The parental origin of extra 21st Chromosome in DS patients were confirmed by short tandem repeat polymerase chain reaction(STR-PCR).3)The environment factors in parents were surveyed through the retrospective questionnaire. 【Results】 1)Among 297 DS patients,the karyotypes of trisomy,translocation and mosaic accounted for 90.2%,5.4% and 4.4%,respectively.2)Clinical analysis: Among 297 DS patients,there were 191 males(64.3%,191/297) and 106 females(35.7%,106/297),with a sex ratio of 1.8∶1(191∶106).The patients whose age at diagnosis were within one month,within one year and within six years accounted for 23%,63% and 92%,respectively.3)The 21st extra chromosome origin analysis: The genealogy of genetic information by STR linkage analysis in 22 cases displayed that the 21st extra chromosomes of 21 cases were originated from mothers,amounting for 95%(21/22).Among them,14 cases were caused by the first division nondisjunction of ovum in patients'mothers.Only one case was originated from the father,accounting for 5%(1/22).4)Environmental factors investigation in parents: the age of 71 mothers who gave birth were below 35 years old,accounting for 88.8%(71/80).And only 9 mothers were equal to or over 35 years old,accounting for 11.2%(9/80)(P0.05).There was no statistically significant difference in smoking and drinking between the father group of DS patients and control group.However,statistical significance could be observed between the two groups in exposure to chemical materials of the parents(P0.05). 【Conclusions】 1)The majority of extra 21st Chromosome of DS patients are originated from their mothers.2)At present,age of a mother giving birth is not main factor for Down's syndrome.3)Smoking and drinking of father,exposure to chemical materials of parents seem not to be directly related to the Down's syndrome.
Nondisjunction
Trisomy
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Studies of fluorescence and other chromosomal variants were informative in 26 out of 72 families. Maternal nondisjunction was found in 19 and paternal in 7 cases. Satellite association studies of these parents and 94 controls from the same age group showed a highly significant increase in the satellite association index (AI) for chromosome 21 in the parents where the nondisjunctional event had taken place. The AI was also higher for chromosome 14. In addition, the parents who produced the normal gametes had significantly higher AI’s for some acrocentrics than the controls. Exogeneous factors increasing satellite association cannot be ruled out. The number of 21–21 associations was significantly increased in the parents with nondisjunction in meiosis I. The results indicate that satellite association may play a role in the etiology of Down syndrome.
Nondisjunction
Etiology
Genetic Association
Meiosis II
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We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with an almost equal number of maternal MI and MII errors. The latter finding is unique among human autosomal trisomies, where maternal MI (trisomies 15, 16, 21, 22) or MII (trisomy 18) errors dominate. Of the nine paternally derived cases five were of MII origin but none arose from MI errors. There was some evidence for elevated maternal age in cases with maternal meiotic origin for liveborn infants. Maternal and paternal ages were elevated in cases with paternal meiotic origin. This is in contrast to results from a similar study of non-disjunction of trisomy 21 where paternal but not maternal age was elevated. We find clear evidence for reduced recombination in both maternal MI and MII errors and the former is associated with a significant number of tetrads (33%) that are nullichiasmate, which do not appear to be a feature of normal chromosome 13 meiosis. This study supports the evidence for subtle chromosome-specific influences on the mechanisms that determine non-disjunction of human chromosomes, consistent with the diversity of findings for other trisomies.
Trisomy
Meiosis II
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The frequency of chromosome aberrations in the lymphocytes of three established heterozygotes for the Bloom9s syndrome gene (ages 67, 57, 46) was compared to that in controls (ages 68, 67, 61, 46, 34). The main part of the study was done on coded slides. No difference was found between the heterozygotes and the control group, except for one control (aged 46) who had a significantly higher number of chromosome aberrations than the others.
Heterozygote advantage
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Nondisjunction
Uniparental disomy
Meiosis II
Trisomy
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Uniparental disomy
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