جستجوی مقالات مرتبط با کلیدواژه "y chromosome" در نشریات گروه "پزشکی"

Chronic myeloid leukemia (CML) is a clonal myeloproliferative neoplasm arising from the neoplastic transformation of pluripotent stem cells and is consistently associated with the BCR-ABL fusion gene located on the Philadelphia chromosome. It accounts for approximately 15% of all cases of leukemia in adults. Its annual incidence is 1-2 cases per 100,000 individuals. It is uncommon in children, and less than 3% of all patients with CML are younger than 20 years. Here, we report an uncommon case of CML in a young male presenting without symptoms.The case was a 19-year-old male who came for a physical fitness checkup. He did not have any presenting symptoms or comorbidities. He arrived at SSG Hospital, where his blood sample was taken and sent to the Hematology Laboratory, Pathology Department, Medical College of Baroda, due to a persistently high leucocyte count for 1 month. On examination, the patient was conscious, oriented, and vitally stable. There was no pallor, icterus, pedal edema, or skin rash. There were no complaints of weight loss, anorexia, abdominal pain, or coughing. Cardiovascular and neurological examinations were normal. On abdominal examination, massive grade 4 splenomegaly was found. In view of the high WBC count and massive splenomegaly, he was advised to undergo cytogenetic examination to confirm or rule out the possibility of CML.

Ring chromosomes are the result of breakage and re-union of distal ends of chromosomal arms. They have a generalfrequency of 1 in 50,000 and 1 in 58,000 for chromosome 13. Ring chromosome 13 is usually presented as a syndromicsituation stigmatized by particular features, including developmental delay, mental retardation and CNS, skeletalor organ anomalies. As an experimental study, here we report a 31 years old male with no major phenotypic manifestationwho was evaluated for azoospermia, while his karyotype revealed presence of a mosaic ring chromosome 13. Hehad a history of bilateral varicocelectomy and no other major finding in his routine infertility work up was determined.Genetic counseling did not provide any clue for mental disability or dysmorphic features. Pathology examination ofthe testicular tissue revealed very scarce number of spermatid/spermatozoa within the tubules in conjunction withdegrees of maturation arrest mostly in spermatocyte stage. In our knowledge, this is the first report of a ring chromosome13, manifested by an isolated male infertility.

Recurrent pregnancy loss is a distinct disorder defined as the loss of at least 2 pregnancies before the 20th wk of gestation. With one half of the genome of the embryo belonging to the father, the integrity of the sperm genome is crucial for a successful pregnancy. Semen analysis is recommended for men in such cases to evaluate sperm concentration, morphology, vitality and motility. However, other important sperm parameters such as sperm epigenetics, aneuploidy, Y chromosome microdeletion and chromatin integrity also correlate with successful pregnancy and delivery rate. This article examines the use of different sperm tests and their importance in male partners of women suffering from recurrent pregnancy loss.

This study investigated the possible role of Genistein as a combination with Imatinib in controlling leukemia cell line proliferation.

Three cell lines, K562, Kcl22, and CCRF, were cultured and analyzed for MTT, LDH, apoptosis, and cycle cell gene expression in the presence of different dosages of Imatinib and Genistein in combination or separately.

Data has shown a decrease in proliferation and an increase in apoptosis activity during combination treatment. LDH assay has shown no additional toxicity due to Genistein consumption in combination therapy. Analysis of the expression of responsible genes for cell cycle demonstrated both G1 (p53, p21 upregulation) and G2 (cdc25c downregulation) inhibitory effect in combination treatment.

Altogether, this study suggests thatthe combination treatment of Imatinib and Genistein for leukemia cells resistant to Imatinib can increase treatment efficiency

Turner syndrome (TS), also known as 45,X, is a genetic disorder caused by the partial or complete lack of an X chromosome. TS can cause a variety of medical and developmental conditions. We aimed to investigate TS mosaicism and variants pattern and research the presence of a correlation between the different variant’s factors and TS occurrence.

From 1984-2018, 100,234 patients referred to the Farhud Genetic Clinic, Tehran, Iran, for karyotyping were studied. TS was determined by the chromosomal assay, and the patients’ karyotype was obtained from amniotic fluid and blood samples. Different variants of the TS diagnosed patients were investigated, including maternal and paternal age at pregnancy, parental consanguinity, and the presence/absence of a family history of the disease.

 Overall, 261/100,234 (0.26%) were diagnosed with TS. These, 150 cases were identified to have the classical 45,X karyotype and 111 cases were identified to have either TS mosaicism or other less common variations of TS karyotyping. Higher parental age at pregnancy and TS data suggested that the occurrence of TS is significantly higher.

Data suggest parental age at pregnancy is an important factor for TS occurrence. Hence, prenatal screening in these groups of parents recommended. This study also implicates early medical diagnostic testing before the onset of puberty or as soon as symptoms arise is essential for early treatment.

Androgens play a role in the development of male phenotype and spermatogenesis during puberty, the function of which is regulated by the androgen receptor (AR) gene. There is a polymorphism site in exon 1 of the gene encoding this receptor that can have different frequencies of CAG trinucleotide repeats and leads to the formation of polyglutamine chains of different lengths in the N-terminal domain of the AR protein and reduced sperm production by affecting spermatogenesis.

To investigate whether the cause of a group of unexplained infertilities could be the increased frequency of CAG repeats in the AR gene of patients with oligozoospermia and azoospermia.

In this case-control study, 84 men including 42 with unexplained infertility As a case group and 42 fertile men as a control group were selected. The frequency of CAG repeats was determined by the polymerase chain reaction method and then the difference in the frequency of these repeats was determined based on the difference in band size on the agarose gel.

The mean CAG repeat length in the azoospermia and oligozoospermia group was 17.5 ± 0.63 and in the fertile group it was 16.11 ± 0.75 (p = 0.46). In addition, most men (88.1% in the case group and 71.41% in the control group) had 13-23 repeats.

No significant correlation was found between CAG repeat length and the risk of male factor infertility in an ethnically defined population of Iranian men. The role of regulatory factors and epigenetic changes should be taken into account too.

In the process of human reproduction, spermatogenesis is one of the most important stages,which is controled by special genes on Y chromosome. Previous studies show that some infertile men havemicrodeletions on Y chromosome, which cause the reduction of sperm count. Three prominent spermatogene-sis loci have been identified on the Y chromosome and entitled “azoospermia factors” (AZFa, b, and c). Hereby,this review article aimed to investigate the content of the Y chromosome microdeletions and their importancein male fertility.

Data and information were collected on English-language articles from PubMedand MEDLINE databases. For Persian articles, Persian-language databases, including SID Scientific Database,IranMedex Medical Articles Database, IranDoc (Iran Scientific Information and Documents Research Institute),Magiran Publication Information, and MedLib were investigated. More than 50 articles on Y chromosome mi-crodeletions and infertility published during 2000-2020 were studied.

Previous studies implicated thatY chromosome microdeletions in AZFa, AZFb, and AZFc regions are accompanied by defect in spermatogenesis,leading to oligo / azoospermia. Patients with AZFa and AZFb microdeletions present secretory azoospermia anddo not have sperm in their seminiferous tubules. Complete AZFc deletion involves region b2/b4, which con-tains a total of 12 genes. Incomplete deletion of AZFc includes b1/b3, b2/b3 and gr/gr. The most common ofwhich are gr/gr. In men with gr/gr deletion, sperm count and motility were lower than control group.Conclu-sion:Y chromosomal microdeletions emerged as the most frequent structural chromosome anomaly associatedwith the quantitative reduction of sperm. The development of assisted reproductive techniques (ART) like intra-cytoplasmic sperm injection (ICSI) and testicular sperm extraction (TESE) helps to bypass the natural barriersof fertilization.

The analysis of ancient DNA (aDNA) can inspire both the public and the scientific community. Knowing about ancient human genomes and comparing them with those of modern humans can give us a new perspective on evolution and the migration of humans over time. aDNA is DNA isolated from ancient specimens. It can also be loosely described as any DNA recovered from biological samples that have not been preserved specifically for later DNA analysis. Examples include DNA recovered from archaeological and historical skeletal material, mummified tissues, archival collections of non-frozen medical specimens, preserved plant remains, ice and permafrost cores, Holocene plankton in marine and lake sediments, and so on. Due to considerable anthropological, archaeological, and public interest, human remains receive ample attention from the DNA community. Genetic genealogy is the use of DNA testing in combination with traditional genealogical methods to infer relationships between individuals and to find ancestors. Genetic genealogy involves the use of genealogical DNA testing to determine the level and type of genetic relationship between individuals. DNA markers such as autosomal single nucleotide polymorphisms (SNPs), Y SNPs, and mitochondrial DNA (mtDNA) SNPs are used. By analyzing the sequence of mtDNA and the Y-chromosome, the path of human migration throughout history and the common ancestor of humans can be identified. mtDNA analysis is a field of research in genetics and molecular archaeology that is efficient in less than ideal conditions, such as with biologically degraded materials. The mtDNA molecule not only has a high copy number, but it can also be extracted from very decayed biological specimens. Its D-loop region is polymorphic, consisting of two hypervariable regions (HVI and HVII) with a large variety in different human populations. The analysis of such mtDNA regions using ancient excavated human bones will determine the genetic composition of human mtDNA known as haplogroups and can be used to identify ancient ethnic groups, trace descendants of ancestors, and follow man’s migration trails.

Background: Microdeletions of the Yq chromosome are among the most frequent genetic etiological factor of male infertility which spans the azoospermia factor regions (AZFa, AZFb and AZFc). Microdeletions are mostly seen in the AZFc region and usually cover genes actively involved in spermatogenesis. Partial AZFc microdeletions may also occur with various spans, namely gr/gr, b2/b3 and b1/b3. It is known that the outcome of microtesticular sperm extraction (TESE), the surgical process for sperm retrieval from the testis in infertile azoospermic men, may be pre- dicted based on the type of AZF microdeletion. We therefore aimed to evaluate the correlation between partial AZFc microdeletions and microTESE results. Materials and Methods: In this cross-sectional study, 200 infertile azoospermic men referred to the Royan Institute were examined for the presence of partial AZFc microdeletions before undergoing microTESE. Partial AZFc micro- deletions were detected by multiplex polymerase chain reaction (PCR) of seven different sequence-tagged site (STS) markers. The data were analyzed with the Chi-square test. Results: Among the 90 patients (45%) with a positive microTESE outcome, 9 (10%) showed a partial microdeletion in AZFc region. Of the 110 (55%) patients with a negative microTESE outcome, 7 (6.3%) had an AZFc partial micro- deletion. With respect to the span of the microdeletions, among the 200 patients, 11 (5.5%) were gr/gr and 5 (2.5%) were b2/b3. Statistical analysis showed no significant difference between the patients with and without partial AZFc microdeletions with respect to microTESE outcome. Conclusion: Partial AZFc microdeletions is not a predictor of microTESE outcome in azoospermic men.

We analyzed the Y-chromosome haplogroups of six documented Arab subpopulations that accommodated separately in different counties of Chaharmahal and Bakhtiari Province but nowadays speak Indo-European language (Luri and Farsi).
This was an outcome study conducted in 2015 to test whether there was any genetic relatedness among some Indo-European-speaking Arab subpopulation accommodated in a geographically similar region, Chaharmahal and Bakhtiari Province, Iran. Seven main Y-chromosome bi-allelic markers were genotyped in six documented Arab subpopulations. Therefore, after DNA extraction from blood samples, PCR reaction carried out by designed primers for J1-M267, J2-M172, and J-M304, I-M170, IJ-M429, F-M89 and K-M9 markers. Then PCR products after quality control on agarose gel were sequenced.
Most subjects (83.3%) belonged to F-M89 haplogroup. These subjects belonged to K-M9 (40%), J2-M172 (40%) and I-M170 (20%). Generally, there were at least three genetically distinct ancestors with a divergence date of about 22200 yr for I, 429000 for J and 47400 before present for K haplogroup and may show separate historical migrations of studied populations. As the most recent common ancestor (MRCA) of most of these populations, haplogroup F, lived about 40000-50000 yr ago, the data do not support a nearly close genetic relationship among all of these populations. However, there were populations with same haplogroups J2 (n=2), K (n=2), or with a closer MRCA, IJ haplogroups, among I and J2 haplogroups. Finding haplogroup I, a specific European haplogroup, among Arab populations was not expected.
Identification of various haplogroups in Arab subpopulations despite its small area and geographically conserved region of this part of Iranian plateau was unexpected.

We report a case of 11-year-old girl with growth retardation and 46, XX, Xq27-qter deletion. The endocrinologic evaluation revealed growth hormone deficiency. In karyotype analysis 46, XX, Xq27-qter deletion was determined. The deletion of terminal region of chromosome 27 is most commonly being detected during the evaluation of infertility, premature ovarian insufficiency or in screening for fragile X carrier status. To our knowledge, this is the first reported case with 46, XX, Xq27-qter deletion and growth hormone deficiency. Furthermore, this case might facilitate future search for candidate genes involved in growth hormone deficiency.

Approximately 15% of couples are infertile with the male factor explaining approximately 50% of the cases. One of the main genetic factors playing a role in male infertility is Y chromosomal microdeletions within the proximal long arm of the Y chromosome (Yq11), named the azoospermia factor (AZF) region. Recent studies have shown there is a potential connection between deletions of the AZF region and recurrent pregnancy loss (RPL). The aim of this study is to examine this association by characterizing AZF microdeletions in two infertile groups: in men with non-obstructive infertility and in men with wives displaying RPL.
In this is a case-control study, genomic DNA was extracted from 80 male samples including 40 non-obstructive infertile men, 20 males from couples with RPL and 20 fertile males as controls. Multiplex polymerase chain reaction was used to amplify 19 sequence tagged sites (STS) to detect AZF microdeletions. Differences between the case and control groups were evaluated by two-tailed unpaired t test. P Only one subject was detected to have Y chromosome microdeletions in SY254, SY157 and SY255 among the 40 men with non-obstructive infertility. No microdeletion was detected in the males with wives displaying RPL and in 20 control males. Y chromosome microdeletion was neither significantly associated with non-obstructive infertility (P=0.48) nor with recurrent pregnancy loss.
Performing Testing for Y chromosome microdeletions in men with non-obstructive infertility and couples with RPL remains inconclusive in this study.

Currently, there are 20,197 human protein-coding genes in the most expertly curated database (UniProtKB/Swiss-Pro). Big efforts have been made by the international consortium, the Chromosome-Centric Human Proteome Project (C-HPP) and independent researchers, to map human proteome. In brief, anno 2017 the human proteome was outlined. The male factor contributes to 50% of infertility in couples. However, there are limited human spermatozoa proteomic studies. Firstly, the development of the mapping of the human spermatozoa was analyzed. The human spermatozoa have been used as a model for missing proteins. It has been shown that human spermatozoa are excellent sources for finding missing proteins. Y chromosome proteome mapping is led by Iran. However, it seems that it is extremely challenging to map the human spermatozoa Y chromosome proteins based on current mass spectrometry-based proteomics technology. Post-translation modifications (PTMs) of human spermatozoa proteome are the most unexplored area and currently the exact role of PTMs in male infertility is unknown. Additionally, the clinical human spermatozoa proteomic analysis, anno 2017 was done in this study.

Selection of the best embryo for transfer is very important in assisted reproductive technology (ART). Using morphological assessment for this selection demonstrated that the correlation between embryo morphology and implantation potential is relatively weak. On the other hand, aneuploidy is a key genetic factor that can influence human reproductive success in ART.

The aim of this lab trial study was to evaluate the incidence of aneuploidies in five chromosomes in the morphologically high-quality embryos from young patients undergoing ART for sex selection.

A total of 97 high quality embryos from 23 women at the age of 37or younger years that had previously undergone preimplantation genetic screening for sex selection were included in this study. After washing, the slides of blastomeres from embryos of patients were reanalyzed by fluorescence in-situ hybridization for chromosomes 13, 18 and 21.

There was a significant rate of aneuploidy determination in the embryos using preimplantation genetic screening for both sex and three evaluated autosomal chromosomes compared to preimplantation genetic screening for only sex chromosomes (62.9% vs. 24.7%, p=0.000). The most frequent detected chromosomal aneuploidy was trisomy or monosomy of chromosome 13.

There is considerable numbers of chromosomal abnormalities in embryos generated in vitro which cause in vitro fertilization failure and it seems that morphological characterization of embryos is not a suitable method for choosing the embryos without these abnormalities.

Y chromosome is one of the two sex chromosomes and is male specific. Due to limited genetic exchange, the main part of that is passed virtually unchanged from one generation to next generation. The short tandem repeats (STRs) are almost constant on chromosomes that make them as an appropriate factor for use in population genetic studies. In this study, we used the STRs of Y chromosome markers in Sadat families and comparison with other families was investigated.

In this study, sampling was done from fifty unrelated males of Sadat families and fifty unrelated males of non‑Sadat families. After the extraction of DNA from blood samples and primer design, polymerase chain reaction (PCR) was performed for each primer pairs separately. The PCR products were run on agarose gel that followed by running on polyacrylamide gel for better resolution. In addition, some sequenced samples were used as identified markers to determine the length of other alleles in polyacrylamide gel.

The survey of six STR in two case and control groups was carried out, and analysis revealed that the frequency of some alleles is different in case group compared to control group. Allele frequency of the markers DYS392, DYS393, DYS19, DYS390, DYS388, and DYS437 on the Y chromosome in Sadat families was quite different in comparison with other families.

The reason for these differences in allele frequencies of the Sadat family in comparison with other families is having a common ancestor.

Microdeletions of the Y chromosome long arm are the most common molecular genetic causes of severe infertility in men. They affect three regions including azoospermia factors (AZFa, AZFb and AZFc), which contain various genes involved in spermatogenesis. The aim of the present study was to reveal the patterns of Y chromosome microdeletions in Iranian infertile men referred to Royan Institute with azoospermia/ severe oligospermia.
Through a cross-sectional study, 1885 infertile men referred to Royan Institute with azoospermia/severe oligospermia were examined for Y chromosome microdeletions from March 2012 to March 2014. We determined microdeletions of the Y chromosome in the AZFa, AZFb and AZFc regions using multiplex Polymerase chain reaction and six different Sequence-Tagged Site (STS) markers.
Among the 1885 infertile men, we determined 99 cases of Y chromosome microdeletions (5.2%). Among 99 cases, AZFc microdeletions were found in 70 cases (70.7%); AZFb microdeletions in 5 cases (5%); and AZFa microdeletions in only 3 cases (3%). AZFbc microdeletions were detected in 18 cases (18.1%) and AZFabc microdeletions in 3 cases (3%).
Based on these data, our results are in agreement with similar studies from other regions of the world as well as two other recent studies from Iran which have mostly reported a frequency of less than 10% for Y chromosome microdeletions.