Inheritance of chromosomal length polymorphisms in the ascomycete Leptosphaeria maculans

1995 ◽  
Vol 247 (4) ◽  
pp. 416-422 ◽  
Author(s):  
Kim M. Plummer ◽  
Barbara J. Howlett
Keyword(s):  
Leptosphaeria Maculans ◽  
Length Polymorphisms ◽  
Chromosomal Length Polymorphisms ◽  
Chromosomal Length

scholarly journals Evaluation of Chromosomal Structural Anomalies in Fertility Disorders

Medicina ◽  
2021 ◽  
Vol 57 (1) ◽  
pp. 37
Author(s):  
Danielius Serapinas ◽  
Emilija Valantinavičienė ◽  
Eglė Machtejevienė ◽  
Agnė Bartkevičiūtė ◽  
Daiva Bartkevičienė
Keyword(s):  
Chromosomal Aberrations ◽  
Structural Changes ◽  
Statistical Significance ◽  
Reproductive Disorders ◽  
Miscarriage Rate ◽  
Recurrent Miscarriages ◽  
Length Polymorphisms ◽  
Medical Histories ◽  
Chromosomal Length Polymorphisms ◽  
Chromosomal Length

Background and objectives: Reproductive disorders may occur not only due to environmental factors (air pollution, stressful lifestyle, previous abortions or the use of contraceptives) but also due to genetic factors. Materials and Methods: The aim of the study was to identify the range and frequency of chromosomal aberrations in couples (n = 99) with infertility or recurrent miscarriages in Lithuania. The data were collected from the out-patient medical histories. The couples were divided into three groups based on pregnancy, childbirth and the number of miscarriages. The Chi-square test was used to carry out the statistical analysis, and the statistical significance was (p < 0.05). Results: There were 6.6% (n = 13) structural changes observed in the karyotype tests. Chromosomal aberrations were found in 3% (n = 6) of the subjects, while 3.6% (n = 7) of them had chromosomal length polymorphisms. No difference was found between the aberration frequency in the karyotypes of men and women (p > 0.05). The most common aberrations were balanced translocations (23.1%, n = 3) which accounted for 15.4% of the reciprocal (n = 2) and 7.7% of the Robertsonian type (n = 1) of translocations. The most frequent aberrations were found in couples with the inability to conceive (42.9% (n = 3), p = 0.031). The childless couples and those with recurrent miscarriages showed an aberration rate of 8.2% (n = 5), while in the couples with at least one child it was 16.1% (n = 5). The group of couples unable to conceive had a significantly higher aberration rate of 28.6% (n = 2), p = 0.029. Miscarriages in partners’ families accounted for 8.1%. Miscarriages on the female side of the family accounted for 4.5% (n = 9), on the male side it accounted for 2.5% (n = 5) and on both sides it accounted for 1.1% (n = 2). There were no statistically significant differences observed between the female and male sides (p > 0.05). The miscarriages observed in the second group of couples (childless with ≥2 miscarriages) were more frequent at 18.1% (n = 11), in the third group (having children ≥2 miscarriages) they were less frequent at 12.9% (n = 4), while no miscarriages were recorded in the first group of infertile couples. In total, 3% of the identified significant chromosomal aberrations were likely to trigger miscarriages or the inability to conceive. Conclusions: In couples with reproductive disorders, chromosomal mutations and chromosomal length polymorphisms were found at similar rates: 3% vs. 3.6%. The highest aberration rate was found in couples that were unable to conceive, a lower one was found in a group with children and ≥2 miscarriages, and the lowest one was found in a childless group of subjects with ≥2 miscarriages. The miscarriage rate in partner families was 8.1%; however, no difference was found between the male and female sides.

Detection of additional restriction fragment length polymorphisms among the weakly virulent (nonaggressive) and highly virulent (aggressive) isolates of Leptosphaeria maculans

1995 ◽  
Vol 41 (12) ◽  
pp. 1135-1141 ◽  
Author(s):  
N. A. Patterson ◽  
M. Kapoor
Keyword(s):  
Restriction Fragment ◽  
Fragment Length ◽  
Southern Hybridization ◽  
Leptosphaeria Maculans ◽  
Restriction Fragment Length Polymorphisms ◽  
Additional Restriction ◽  
Gene Probe ◽  
Genetic Characteristics ◽  
Length Polymorphisms ◽  
Restriction Fragment Length

Isolates of Leptosphaeria maculans were analyzed for their genetic relatedness based on DNA restriction fragment length polymorphisms (RFLPs), employing as Southern hybridization probes a combination of heat shock responsive genes (hsp70 and hsp80 from Neurospora crassa), the cutinase gene of Magnaporthe grisea, and cloned genomic DNA sequences from a virulent strain. Southern hybridization analysis revealed a high frequency of DNA polymorphism. Restriction fragments generated by each enzyme-probe combination resulted in distinct banding patterns, clearly separating the isolates into two groups. The cutinase gene probe did not reveal any polymorphisms. Although the majority of the probes used displayed RFLP profiles unique to each group, a nonaggressive isolate, LmA, showed additional genetic characteristics in common with the virulent pathotype.Key words: Leptosphaeria, genomic libraries, RFLP.

POLYMORPHISMS OF ENDOTHELIAL DYSFUNCTION GENES NOS3 AND CYBA IN YAKUT POPULATION

2020 ◽  
pp. 20-25
Author(s):  
Soloveva Yu.A. ◽  
Borisova N.V.
Keyword(s):  
Endothelial Dysfunction ◽  
Coronary Syndrome ◽  
Pathological Conditions ◽  
Nos3 Gene ◽  
Yakut Population ◽  
Length Polymorphisms ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
The Republic ◽  
Cyba Gene

Polymorphisms of different genes can predispose people to various diseases. They can influence the body's physiological response to exogenous risk factors. Polymorphisms of the endothelial dysfunction genes NOS3 and CYBA contribute to the development of socially significant diseases, such as acute coronary syndrome, stroke, as well as diseases accompanied by fibrotic changes (cirrhosis of the liver, pulmonary fibrosis, etc.). Therefore, the study of these genes in the Yakut population seems relevant. The present study involved 124 healthy volunteers, their ethnicity is Yakuts (including Yakuts in the third generation, living in the Republic of Sakha (Yakutia)). Genetic analysis of polymorphisms was performed by the method of polymerase chain reaction of restriction fragment length polymorphisms (PCR-RFLP). The study found that healthy Yakuts have GG homozygote of rs1799983 of the NOS3 gene in 83.87%, GT - 15.32%, TT - 0.81%. The frequency of the G allele was 91.53%, the T allele - 8.47%. The study found that healthy Yakuts have CC homozygote of rs4673 of the CYBA gene in 75.0%, CT - 21.77%, TT - 3.23%. The frequency of C allele was 91.44%, T - 8.56%. These results are consistent with the literature data. Thus, the research of the polymorphism rs1799983 of the NOS3 gene and rs4673 of the CYBA gene in various ethnic groups could have encouraging prospects in the personalized medicine for predicting pathological conditions associated with endothelial dysfunction: liver fibrosis, cardiovascular diseases, obstetric and gynecological pathologies, dysfunctions of various organs and systems.

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