scholarly journals Root tip chromosome karyotype analysis of hyacinth cultivars

2015 ◽  
Vol 14 (3) ◽  
pp. 10863-10876 ◽  
Author(s):  
F.R. Hu ◽  
H.H. Liu ◽  
F. Wang ◽  
R.L. Bao ◽  
G.X. Liu
Keyword(s):  
Karyotype Analysis ◽  
Root Tip ◽  
Chromosome Karyotype

scholarly journals Polyploidy in Stokes Aster (Stokesia laevis)

HortScience ◽  
2005 ◽  
Vol 40 (4) ◽  
pp. 1101A-1101
Author(s):  
Jessica Gaus ◽  
Dennis Werner ◽  
Shyamalrau Tallury
Keyword(s):  
Segregation Analysis ◽  
Karyotype Analysis ◽  
Flow Cytometric Analysis ◽  
Root Tip ◽  
Hybrid Progeny ◽  
Chromosome Counts ◽  
Segregation Behavior ◽  
Flow Cytometric ◽  
Triploid Block ◽  
Aberrant Segregation

Segregation analysis of two different F2 families of stokes aster created by hybridizing two blue-flowered cultivars [`Peaches Pick' (PE) and `Omega Skyrocket' (OSR)] with the yellow-flowered cultivar `Mary Gregory' (MG) gave disparate results. The F2 progeny of PE × MG segregated in the expected 3:1 (blue:yellow) ratio. In contrast, all 782 progeny from the MG × OSR F2 family were blue-flowered. Flow cytometric analysis of the parents and F1 hybrids was conducted to determine if ploidy differences existed among the parents, as such differences could account for aberrant segregation behavior in the MG × OSR F2 family. Peak ratios suggested that MG and PE were diploid, OSR was tetraploid, and F1 hybrids of MG × OSR were triploid. Chromosome counts from root tip squashes confirmed that MG and PE were diploid (2n= 2x= 14), OSR was tetraploid (2n= 4x= 28), and F1 hybrid progeny of MG × OSR were triploid (2n= 3x= 21). Karyotype analysis also confirmed these results. We propose that the lack of recovery of yellow-flowered progeny in the MG × OSR F2 family is due to differences in parental chromosome number. These results document the first report of polyploidy in stokes aster, and suggest the absence of a triploid block in this species.

scholarly journals Research on Chromosome Karyotype Analysis of Plumbago auriculata

OALib ◽  
2014 ◽  
Vol 01 (03) ◽  
pp. 1-7 ◽  
Author(s):  
Chenyu Zhao ◽  
Fan Li ◽  
Suping Gao
Keyword(s):  
Karyotype Analysis ◽  
Chromosome Karyotype

scholarly journals Identification of a Novel Homozygous Nonsense Mutation in a Fetus with Bardet-Biedl Syndrome

2021 ◽  
Author(s):  
Meiying Cai ◽  
Min Lin ◽  
Xinrui Wang ◽  
Linjuan Su ◽  
Xiaoqing Wu ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Karyotype Analysis ◽  
Single Nucleotide Polymorphism Array ◽  
Genetic Disorder ◽  
Snp Array ◽  
Heterozygous Mutation ◽  
Homozygous Mutation ◽  
Bardet Biedl Syndrome ◽  
Homozygous Nonsense Mutation ◽  
Chromosome Karyotype

Abstract Background: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder with clinical and genetic heterogeneity. BBS is more commonly reported in adults and children than in fetuses. Here, we reported the intrauterine phenotype and molecular characterizations of a fetus with BBS. Methods: Chromosome karyotype analysis, whole exome sequencing (WES), and a single nucleotide polymorphism array (SNP-array) were used to analyze the genetic etiology of a fetus with enlarged kidneys, enhanced echo, and oligohydramnios. Results: The results of chromosome karyotype analysis and SNP-array on the fetus were normal. WES, however, revealed homozygous mutation of c.1177C>T (p.Arg393*) on exon 12 of the BBS1 gene, and heterozygous variation of c.2704G>A (p.Asp902Asn) on exon 22 of the CC2D2A gene. According to ACMG guidelines, c.1177C> T was identified as a pathogenic mutation and c.2704G>A was identified as an uncertain significance. Sanger sequencing showed that there was heterozygous mutation of c.1177C>T and heterozygous variation of c.2704G>A in the parents of the fetus. Conclusions: WES identified a novel homozygous nonsense mutation c.1177C>T in the BBS1 gene of a Chinese fetus. The finding provides more insight into BBS1 mutations in Asian populations in general, and provides a basis for genetic counseling.

scholarly journals Application values of prenatal screening and non‑invasive gene sequencing in fetal birth defects

2020 ◽  
Vol 36 (7) ◽  
Author(s):  
Jingjing Bu ◽  
Pan Jiang ◽  
Xiaoli Cui ◽  
Hongyan Zhou ◽  
Fengxia Han
Keyword(s):  
Embryonic Development ◽  
Pregnant Women ◽  
Birth Defects ◽  
Prenatal Screening ◽  
Karyotype Analysis ◽  
Gene Sequencing ◽  
Sequencing Technology ◽  
Non Invasive ◽  
Diagnosis Accuracy ◽  
Chromosome Karyotype

Objective: To investigate effects of prenatal screening and non-invasive gene sequencing on the clinical diagnosis of fetal birth defects and the outcome of pregnancy. Methods: Totally 2520 pregnant women who received prenatal screening in our hospital were selected as the research subjects. The high-risk pregnant women were further tested by the non-invasive gene sequencing technology. Pregnant women with positive results were diagnosed by amniocentesis and fetal chromosome karyotype analysis, and the pregnancy outcome was followed up for one year. Results: 870 out of the 2520 pregnant women was tested by non-invasive gene sequencing technology; 26 of the 870 women was 13-trisomy-positive and was diagnosed by amniocentesis and fetal chromosome karyotype analysis, 22 of which was diagnosed as 47, XN, +13 and four of which was normal; the diagnosis accuracy of non-invasive prenatal testing (NIPT) was 84.6%. 18 out of the 22 confirmed cases underwent abortion, three cases had termination of embryonic development, and one case had postnatal anomaly. Thirty four out of the 2520 pregnant women was 18-trisomy-positive and was diagnosed by amniocentesis and fetal chromosome karyotype analysis, 31 of which was diagnosed as 47, XN, +18 and three cases were normal; the diagnosis accuracy of NIPT was 91.2%. 29 out of the 31 confirmed cases underwent abortion and two cases had termination of embryonic development. Forty out of the 2520 pregnant women was 21-trisomy-positive and was diagnosed by amniocentesis and fetal chromosome karyotype analysis, 39 of which was diagnosed as 47, XN, +21 and one case was normal; the diagnosis accuracy of NIPT was 97.5%. Thirty four out of the 39 confirmed cases underwent abortion, three cases had termination of embryonic development, and two cases had postnatal anomaly. Twenty eight cases were tested as sex chromosome-positive and were diagnosed by amniocentesis and fetal chromosome karyotype analysis, 25 out of which was diagnosed as abnormal and three cases were normal; the diagnosis accuracy of NIPT was 89.3%. 24 out of the 25 confirmed cases underwent abortion, and one case had termination of embryonic development. Conclusion: Prenatal screening and non-invasive gene sequencing technology have a high accuracy in the diagnosis of fetal birth defects, which can reduce the maternal abortion injury as much as possible and relieve the psychological pressure. The promotion of the mode can be strengthened in clinics. doi: https://doi.org/10.12669/pjms.36.7.2290 How to cite this:Bu J, Jiang P, Cui X, Zhou H, Han F. Application values of prenatal screening and non‑invasive gene sequencing in fetal birth defects. Pak J Med Sci. 2020;36(7):---------. doi: https://doi.org/10.12669/pjms.36.7.2290 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

scholarly journals Combined Application of Chromosome Karyotype and Microarray Analysis in Fetus With Increased Nuchal Translucency

2021 ◽  
Author(s):  
Wang Chaohong ◽  
Tang Junxiang ◽  
Sun Yuxiu ◽  
Pang Yu ◽  
Tong Keting ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Microarray Analysis ◽  
Chromosomal Abnormalities ◽  
Karyotype Analysis ◽  
Nuchal Translucency ◽  
Chromosome Abnormalities ◽  
Detection Rates ◽  
Combined Application ◽  
Chromosome Karyotype

Abstract Objective：To examine the risk of chromosomal abnormalities when the thickness of the nuchal translucency( NT ) is 2.5-2.9mm, to evaluate the cutoff value of NT for prenatal diagnosis, to explore the value of combined application of chromosome karyotype and microarray analysis, and to explore the relationship between NT ≥ 5.0mm and fetal prognosis. Methods：A total of 366 pregnant women who underwent prenatal diagnosis in Anhui Province Maternity and Child Health Hospital from January 2018 to August 2020 were collected, of which 241 cases had NT ≥ 2.5mm, 125 cases were elderly (35-38 years old) with NT < 2.5mm. We made grouping statistics on chromosome abnormalities,and compared the detection of chromosome abnormalities by karyotype and microarray analysis. At the same time, we followed up the fetuses with NT ≥ 5.0mm and analyzed their prognosis. Results: (1)Among the 366 cases with NT thickening,the detection rates of chromosome abnormalities by karyotype analysis and microarray analysis(CMA) were 13.39% (49/366) and 13.93% (51/366), respectively, and there was no significant difference (P>0.05), including 25 cases of trisomy 21, 5 cases of trisomy 18, 5 cases of Turner synthesis and 16 cases of other chromosome abnormalities. (2)We compared the effect of different NT value on the detection rate of pathogenic chromosomes, and found that the difference between NT ≥2.5mm and NT < 2.5mm was statistically significant(P<0.05). The detection rates of pathogenic chromosomal abnormalities in NT < 2.5mm group,2.5-2.9mm group, 3.0-3.4mm group,3.5-4.4mm group,4.5-5.4mm group and NT ≥ 5.5mm group were 0.8%(1/ 125), 11.63%(10/ 86), 17.81%(13/ 73), 20%(10/ 49), 47.62%(10/ 21) and 63.64%(7/ 11) respectively. (3)Our study found that different prenatal diagnostic indicators for abnormal chromosome detection rate difference was statistically significant(P<0.05). The detection rates of NT thickening alone and NT thickening combined with other abnormalities were 13.17%(22/ 167) and 35.14%(26/ 74) respectively(P<0.05). (4)Among 18 pregnant women with NT ≥ 5.0 mm, 9 fetuses were chromosomal abnormalities, and 9 fetuses survived healthily. Conclusions：When the NT value is 2.5-2.9mm, the incidence of fetal chromosome abnormality is significantly higher than that in the normal group. It is suggested that invasive prenatal diagnosis should be performed for pregnant women with NT ≥ 2.5mm. Chromosome karyotype analysis and CMA can complement each other, which is conducive to prenatal genetic counseling. The fetuses with NT thickening usually have good pregnancy outcomes when excluding fetal chromosome and prenatal ultrasound does not indicate any abnormalities.

scholarly journals Prenatal Diagnosis and Prognosis of Fetal Hyperechogenic Kidney: A Study of 80 Cases

2021 ◽  
Author(s):  
Jin HAN ◽  
YanJun Huang ◽  
Bing Ji ◽  
Zequn liu ◽  
Shuzheng Xu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Microarray Analysis ◽  
Karyotype Analysis ◽  
Single Gene ◽  
Detection Methods ◽  
Genetic Characteristics ◽  
Whole Exome ◽  
Chromosome Karyotype

Abstract Background Prenatal diagnosis of fetal hyperechogenic kidney poses a challenge. The aim of this study was to investigate the genetic reasons and prognosis of fetal hyperechogenic kidney diagnosed on prenatal ultrasonography. Methods We retrospectively reviewed the clinical data of 80 cases of prenatally diagnosed fetal hyperechogenic kidney by the obstetric ultrasound. The genetic characteristics and pregnancy outcomes were analyzed using chromosome karyotype analysis, chromosome microarray analysis, and whole-exome sequencing. Results Of the 80 cases, 48 (60%) were those of isolated fetal hyperechogenic kidney and 32 (40%) were those of non-isolated cases, including 4 cases (5%) of urinary system abnormalities, 7 (8.75%) of central nervous system abnormalities, 5 (6.25%) of cardiac abnormalities, and 16 (20%) of multiple abnormalities. Chromosome karyotype analysis and microarray analysis revealed 17 (21.25%) abnormalities, including isolated fetal hyperechogenic kidney (9, 11.25%) and chromosome microdeletion microduplication (17q12 microdeletion syndrome, Williams-Beuren syndrome, 4p16.3-p16.1 microduplication syndrome) (8, 10%). Moreover, 9 patients had single gene mutations, including those of BBS2, BBS7, HNF1B, ACE, CEP290, COL4A5, and PKHD1. Total 48 pregnancies were terminated (57.3%), and the remaining 32 fetuses survived and grew normally, the neonatal renal function tests were normal. Conclusions Fetal hyperechogenic kidney chromosome abnormalities are common, in particular, there is considerable prevalence of isolated fetal hyperechogenic kidney. Therefore, advances in prenatal diagnosis are crucial, if necessary, with the combined use of whole-exome sequencing and other comprehensive detection methods.

Karyotype Analysis and Giema C-Banding Patterns in Thinopyron elongatum

2011 ◽  
Vol 183-185 ◽  
pp. 877-881 ◽  
Author(s):  
Qu Min
Keyword(s):  
Karyotype Analysis ◽  
Root Tip ◽  
Banding Patterns ◽  
C Banding ◽  
Cytological Data ◽  
Banding Analysis ◽  
Karyotype Formula ◽  
Tip Cells ◽  
Root Tip Cells

Giemsa C-banding patterns and karyotype of chromosomes were analyzed in the root-tip cells of diploid Thinopyron elongatum. A modified seed germinating method was developed for obtaining the C-banding patterns in diploid Thinopyron elonggatum. The results of The C-banding analysis showed the significant differences among the seven pairs of chromosomes in diploid Thinopyron elonggatum. The intensive C-bands were stained steadily on the intercalary, terminal, subcentromeric and centromeric regions of Chromosomes. We found that there are three pairs of metacentric chromosomes and four pairs of submetacentric chromosomes in diploid Thinopyron elonggatum. The karyotype formula is 2n=2x=14=6m+8sm. Present results provided a basic cytological data and will be useful for the further studies in Thinopyron elongatum.

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