OBJECTIVEStudy on the karyotypes analysis of Ferula fukanensis.

METHODThe young roots were treated with 0.000 2 mol x L(1) 8-Hydroxyquinoline for 3 h, carnoy's for 3 h, 1 mol x L(-1) HCl in 5 min,carbol fuchsin coloration for 2 min and the treated roots were utilizied to make the plate for observation.

RESULTThe fukanensis is diploid. The chromosome number of somatic cells was 2n = 22. The karyotype formula is 2n = 2x = 20 = 16m + 4sm. The 4th and 10th are submetacentric, and the others are metacentric.

CONCLUSIONThe karyotype of F. fukanensis belongs to "2A" type of stebbins', and it is a primitive species.

Centromere ; Chromosomes, Plant ; genetics ; Diploidy ; Ferula ; genetics ; Karyotyping ; Plant Roots ; genetics ; Plants, Medicinal ; genetics ; Seeds ; genetics

OBJECTIVE: To explore the genetic characteristics of idic(X)(p11.22) in Turner syndrome (TS). METHODS: Two fetuses suspected for sex chromosome abnormalities or ultrasound abnormalities were selected from Chengdu Women's and Children's Central Hospital in October 2020 and June 2020, and amniotic fluid samples were collected for G-banded chromosomal karyotyping analysis, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH). RESULTS: The two fetuses were respectively found to have a karyotype of 45,X[47]/46,X,psu idic(X)(p11.2)[53] and 46,X,psu idic(X)(p11.2). CMA found that both had deletions in the Xp22.33p11.22 region and duplications in the p11.22q28 region. FISH showed that the centromeres in both fetuses had located on an isochromosome. CONCLUSION The combination of karyotyping analysis, FISH, and CMA is useful for the delineation of complex structural chromosomal aberrations. High-resolution CMA can accurately identify chromosomal breakpoints, which can provide a clue for elucidating the mechanism of chromosomal breakage and rearrangement.
Female ; Pregnancy ; Humans ; Turner Syndrome/genetics* ; In Situ Hybridization, Fluorescence ; Sex Chromosome Aberrations ; Centromere ; Prenatal Diagnosis

OBJECTIVE: To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8. METHODS: Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness. RESULTS: The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3]. CONCLUSION The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
Female ; Pregnancy ; Humans ; Chromosomes, Human, Pair 8/genetics* ; In Situ Hybridization, Fluorescence ; Gene Rearrangement ; Prenatal Diagnosis ; Centromere

Although trisomy 18 (Edwards' syndrome) or the terminal deletion syndromes of 18p and 18q have been occasionally detected, pseudoisodicentric chromosome 18 is a very rare constitutional chromosomal abnormality. We describe a case of pseudoisodicentric chromosome 18q without mosaicism, which was confirmed from fetal cells in the amniotic fluid used for prenatal diagnosis of multiple congenital anomalies. A 23-yr-old pregnant woman was suspected of having a fetal anomaly at 18(+3) weeks gestation. In sonography, the fetus showed multiple anomalies: bilateral overt ventriculomegaly in the brain, ventricular septal defect and valve anomaly in the heart, bilateral club foot, polydactyly, meningocele, and a single umbilical artery. The pregnancy was terminated and a conventional G-banded chromosome study was performed using amniotic fluid. Twenty metaphase cells among the cultured amniocytes showed a 46,XX,psu idic(18)(q22). Consequently, the fetus had partial trisomy (18pter-->q22) and partial monosomy (18q22-->qter). Both parents were confirmed to have a normal karyotype.
Abnormalities, Multiple/diagnosis/*genetics ; Centromere ; *Chromosomes, Human, Pair 18 ; Female ; Gestational Age ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis/*methods ; Trisomy ; Ultrasonography, Prenatal ; Young Adult

During liquefaction of the ejaculate, the semen coagulum proteins semenogelin I (SEMG1) and semenogelin II (SEMG2) are degraded to low molecular mass fragments by kallikrein-related peptidase 3 (KLK3), also known as prostate-specific antigen. Semenogelin molecules initiate their own destruction by chelating Zn(2+) that normally would completely inhibit the proteolytic activity of KLK3. In a similar way, semenogelins might regulate the activity of kallikrein-related peptidases in the epididymis, something that might be of importance for the maturation of spermatozoa or generation of anti-bacterial peptides. Studies on the evolution of semen coagulum proteins have revealed that most of them carry an exon that displays a rapid and unusual evolution. As a consequence, homologous proteins in rodents and primates show almost no conservation in primary structure. Further studies on their evolution suggest that the progenitor of the semen coagulum proteins probably was a protease inhibitor that might have displayed antimicrobial activity. The semenogelin locus on chromosome 20 contains at least 17 homologous genes encoding probable protease inhibitors with homology to semen coagulum proteins. All of these are highly expressed in the epididymis where they, similar to the semenogelins, could affect the maturation of spermatozoa or display antibacterial properties.
Animals ; Centromere ; Chromosome Mapping ; Chromosomes, Human, Pair 20 ; Ejaculation ; Epididymis ; physiology ; Evolution, Molecular ; Gene Expression Regulation ; Humans ; Male ; Primates ; Semen ; physiology ; Seminal Vesicle Secretory Proteins ; genetics

Turner syndrome is one of the most common cytogenetic abnormalities. It is known that the Y chromosome or Y derived material is present in 6-9% of TS patient and it may develop a high risk of gonadoblastoma in 15-25%. So it is crucial to carry out cyto genetic analysis and Y-specific probe studies for all persons with gonadal dysgenesis to rule out mosaicism with Y-bearing cell line; eg 45,X/46,XY. In this study, 26 archival slides previously analyzed cytogenetically as 45,X, 45,X/46,X,i(X), 45,X/46,X,r(X), and 45,X/46,XX were examined. Coamplification PCR, having the advantage of providing rapid result and confirming PCR failure, was performed with the slide samples in the regions of dystrophin gene in Xp21and DYZ3 in the Y centromeric region. All of archived slides were positive for X-specific gene and one slide of 45,X was found to have the cryptic Y chromosome material. Our result suggests that the archived cytogenetic slides could be applied for the detection of Y chromosome rapidly and efficiently in TS patients.
Biopsy ; Centromere/genetics ; Cytogenetic Analysis ; DNA/genetics ; DNA/analysis ; Dystrophin/genetics ; Female ; Human ; Karyotyping ; Male ; Mosaicism* ; Polymerase Chain Reaction ; Time Factors ; Tissue Preservation ; Turner's Syndrome/pathology ; Turner's Syndrome/genetics* ; X Chromosome/genetics ; Y Chromosome/genetics*

Breast Neoplasms ; diagnosis ; genetics ; pathology ; Carcinoma, Ductal, Breast ; diagnosis ; genetics ; pathology ; Centromere ; genetics ; Chromosomes, Human, Pair 17 ; genetics ; Early Detection of Cancer ; methods ; Female ; Gene Amplification ; Gene Dosage ; Genes, erbB-2 ; Humans ; Immunohistochemistry ; In Situ Hybridization ; standards ; Receptor, ErbB-2 ; genetics

OBJECTIVETo study the changes of peripheral blood chromosomal centromere aberration in patents with cytomegalovirus (CMV) infection after anti-viral treatment.

METHODSSixty-two patients with early spontaneous abortion and CMV infection analyzed for their peripheral blood chromosomal centromere using simultaneous silver staining before and after anti-viral treatment.

RESULTSThe patients with CMV infection had high rate of centromere aberration, which was decreased significantly after anti-viral treatment (P<0.0001).

CONCLUSIONCMV infection is a risk factor for peripheral blood chromosomal centrimere aberration. Anti-viral treatment can decrease the rate of centrimere aberration aberration. Detection of peripheral blood chromosomal centrimere aberration allows the assessment of the severity of infection and the condition after treatment.

Abortion, Spontaneous ; blood ; genetics ; Adult ; Antiviral Agents ; therapeutic use ; Centromere ; genetics ; Chromosome Aberrations ; Cytomegalovirus Infections ; blood ; drug therapy ; genetics ; Female ; Humans ; Pregnancy ; Pregnancy Complications, Infectious ; blood ; drug therapy ; genetics ; Young Adult

Animals ; Autoantigens ; genetics ; metabolism ; physiology ; Centromere Protein A ; Chromosomal Instability ; Chromosomal Proteins, Non-Histone ; genetics ; metabolism ; physiology ; Gene Expression Regulation, Neoplastic ; Humans ; Kinetochores ; metabolism ; Mitosis ; physiology ; Rectal Neoplasms ; genetics ; metabolism ; pathology ; Spindle Apparatus ; metabolism

Genetic information stored in DNA is accurately copied and transferred to subsequent generations through DNA replication. This process is accomplished through the concerted actions of highly conserved DNA replication components. Epigenetic information stored in the form of histone modifications and DNA methylation, constitutes a second layer of regulatory information important for many cellular processes, such as gene expression regulation, chromatin organization, and genome stability. During DNA replication, epigenetic information must also be faithfully transmitted to subsequent generations. How this monumental task is achieved remains poorly understood. In this review, we will discuss recent advances on the role of DNA replication components in the inheritance of epigenetic marks, with a particular focus on epigenetic regulation in fission yeast. Based on these findings, we propose that specific DNA replication components function as key regulators in the replication of epigenetic information across the genome.
Cdc20 Proteins ; antagonists & inhibitors ; genetics ; metabolism ; Centromere ; metabolism ; Chromatin ; metabolism ; Chromosomal Proteins, Non-Histone ; metabolism ; DNA Replication ; DNA, Fungal ; metabolism ; Epigenesis, Genetic ; Histones ; metabolism ; Schizosaccharomyces ; genetics ; metabolism ; Schizosaccharomyces pombe Proteins ; antagonists & inhibitors ; genetics ; metabolism