PURPOSE OF REVIEW: To highlight and discuss the new evidence on occupational and environmental risk to male reproductive function. RECENT FINDINGS: Semen quality following occupational exposure to boron (an acknowledged experimental reproductive toxicant) and benzene, and new evidence on low-level environmental exposure to widespread xenobiotics with endocrine actions. SUMMARY: The ...

Fluorescence in situ hybridization (FISH) has become a standard technique in environmental microbiology. More than 20 years have passed since this technique was first described, and it is currently used for the detection of ribosomal RNA, messenger RNA, and functional genes encoded on chromosomes. This review focuses on the advancement ...

Urothelial carcinomas arising from the upper urinary tract (renal pelvis and ureter) are rare and few molecular genetic studies of these tumors have been conducted to date. We investigated hyperploidy at chromosomes 3, 7, and 17 using a multitarget fluorescence in situ hybridization system to identify genetic alterations in patients ...

Gray leaf spot (GLS), caused by the causal fungal pathogen Cercospora zeae-maydis, is one of the most serious foliar diseases of maize worldwide. In the current study, a highly resistant inbred line Y32 and a susceptible line Q11 were used to produce segregating populations for both genetic analysis and QTL ...

A novel source of resistance to two-spotted spider mite (Tetranychus urticae Koch) was found in Solanum pimpinellifolium L. accession TO-937 and thereby a potential source of desirable traits that could be introduced into new tomato varieties. This resistance was found to be controlled by a major locus modulated by minor ...

PURPOSE: We identified the loci associated with renal scarring risk and protection in affected sib pairs with familial vesicoureteral reflux. MATERIALS AND METHODS: A genome-wide analysis of vesicoureteral reflux with high density single nucleotide polymorphisms was conducted in 43 families with 2 or more affected children. A total of 43 ...

STUDY QUESTION: Is there an association between sex chromosome disomy and semen concentration, motility and morphology? SUMMARY ANSWER: Higher rates of XY disomy were associated with a significant increase in abnormal semen parameters, particularly low semen concentration. WHAT IS KNOWN ALREADY: Although some prior studies have shown associations between sperm ...

Three linkage maps of flax (Linum usitatissimum L.) were constructed from populations CDC Bethune/Macbeth, E1747/Viking and SP2047/UGG5-5 containing between 385 and 469 mapped markers each. The first consensus map of flax was constructed incorporating 770 markers based on 371 shared markers including 114 that were shared by all three populations ...

ABSTRACT: BACKGROUND: A synthetic doubled-haploid hexaploid wheat population, SynDH1, derived from the spontaneous chromosome doubling of triploid F1 hybrid plants obtained from the cross of hybrids Triticum turgidum ssp. durum line Langdon (LDN) and ssp. turgidum line AS313, with Aegilops tauschii ssp. tauschii accession AS60, was previously constructed. SynDH1 is ...

A durum wheat consensus linkage map was developed by combining segregation data from six mapping populations. All of the crosses were derived from durum wheat cultivars, except for one accession of T. ssp. dicoccoides. The consensus map was composed of 1,898 loci arranged into 27 linkage groups covering all 14 ...

Previous studies have identified multiple blood pressure and renal disease quantitative trait loci located on rat chromosome 12. In the present study, we narrowed blood pressure loci using a series of overlapping Dahl salt-sensitive/Mcwi (SS)-12 Brown Norway (BN) congenic lines. We found that transferring 6.1 Mb of SS chromosome 12 ...

The karyotype of Microsporum canis was analyzed by contoured-clamped homogeneous electric field (CHEF) gel electrophoresis. Four chromosomal bands that correspond to five chromosomes ranging from 3.0-6.2 Mb were identified, adding the total genome size to approximately 24.9 Mb. To confirm the number of chromosomes in M. canis, the number of ...

The grass festulolium, a hybrid between the genera Festuca and Lolium , has a variety of beneficial agronomic attributes derived from both parents. Compared with high-ploidy festulolium, diploid festulolium is well suited to stabilizing ploidy and for studying agronomic traits and genetic relationships. We sought to produce a diploid festulolium ...

ABSTRACT Tianjingyeshengdao' (TY) is a rice cultivar with durable resistance to populations of Magnaporthe oryzae (the causal agent of blast) in China. To understand the genetic basis of its resistance to blast, we developed a population of recombinant inbred lines from a cross between TY and the highly susceptible 'CO39' ...

The productivity of sorghum is mainly determined by agronomically important traits. The genetic bases of these traits have historically been dissected and analysed through quantitative trait locus (QTL) mapping based on linkage maps with low-throughput molecular markers, which is one of the factors that hinder precise and complete information about ...

Fat content (FC) is an important component of the nutritional quality of the rice (Oryza sativa L.) grain and a partial determinant of grain quality. Three FC QTLs were identified from an analysis of a set of rice 'Kasalath'/'Koshihikari' backcross inbred lines, which were grown in three independent environments. Two ...

MSM/Ms is an inbred mouse strain derived from a Japanese wild mouse, Mus musculus molossinus. In this study, we showed that MSM/Ms exhibit dominant resistance when crossed with susceptible FVB/N mice and subjected to the two stage skin carcinogenesis protocol using 7, 12-dimethylbenz(a)anthracene (DMBA)/ 12-O-tetradecanoylphorbol-13-acetate (TPA). A series of F1 ...

Partial duplications and deletions of chromosome 13 are rare and the phenotypic expressions of both aneuploidies are highly variable. Here we report on a fetus diagnosed prenatally with partial trisomy of 13q and a diaphragmatic hernia as a sole malformation. The parents had decided to terminate the pregnancy after the ...

Solanum lycocarpum St.-Hil. (Solanaceae) is a hairy shrub or small much-branched tree of the Brazilian Cerrado, popularly known as "fruit-of-wolf". Considering that the induction of chromosomal mutations is involved in the process of carcinogenesis, and that S. lycocarpum is often used in folk medicine, it becomes relevant to study its ...

Abstract Purpose: The aim of this study was to contribute to an inter-laboratory investigation within the Non-Targeted Effects of Ionising Radiation Integrated project (NOTE) (2006-2010) to investigate the role of serum serotonin concentration on radiation-induced bystander effects using our successful experimental design. Two sera of high and low serotonin levels ...

In oligodendrogliomas, 1p loss of heterozygosity (LOH) is a predictor of good prognosis and treatment response. In contrast, in uveal melanomas, LOH of chromosome 3 has been linked to poor prognosis and downregulation of Hsp27. In the present study, we have analyzed the expression of heat-shock proteins (Hsps) to characterize ...

Stripe rust and leaf rust, caused by Puccinia striiformis Westend. f. sp. tritici Erikss. and P. triticina, respectively, are devastating fungal diseases of common wheat (Triticum aestivum L.). Chinese wheat cultivar Bainong 64 has maintained acceptable adult-plant resistance (APR) to stripe rust, leaf rust and powdery mildew for more than ...

Four multiplex PCR systems followed by single base extension reactions were developed to score 22 single nucleotide polymorphisms (SNPs) and identify the most frequent East Asian Y chromosome haplogroups. Select Y chromosome SNPs allowed hierarchical testing for almost all of the major East Asian haplogroups along the revised Y chromosome ...

Systemic sclerosis (SSc) or scleroderma is a rare, autoimmune, multi-factorial disease characterized by early microvascular alterations, inflammation, and fibrosis. Chickens from the UCD-200 line develop a hereditary SSc-like disease, showing all the hallmarks of the human disorder, which makes this line a promising model to study genetic factors underlying the ...

The outcome of older (≥ 60 years) acute myeloid leukemia (AML) patients is poor, and novel treatments are needed. In a phase 2 trial for older AML patients, low-dose (20 mg/m(2) per day for 10 days) decitabine, a DNA hypomethylating azanucleoside, produced 47% complete response rate with an excellent toxicity ...

BACKGROUND: Genetic and epigenetic alterations are the two key mechanisms in the development of hepatocellular carcinoma (HCC). However, how they contribute to hepatocarcinogenesis and the correlation between them has not been fully elucidated. METHODS: A total of 48 paired HCCs and noncancerous tissues were used to detect loss of heterozygosity ...

Y chromosome single nucleotide polymorphisms (Y-SNPs) are indispensable markers for haplogroup determination. Since Y chromosome haplogroups show a high specific geographical distribution, they play a major role in population genetics but can also benefit forensic investigations. Although haplogroup prediction methods based on Y chromosome short tandem repeats (Y-STRs) exist and ...

Optimizing the beneficial mineral elements in rice grains is of interest for rice breeders. To study the environmental effects on mineral accumulation in rice grains, we grew a double-haploid (DH) population derived from the cross between cultivars Chunjiang 06 (CJ06, a japonica rice) and TN1 (an indica rice) under two ...

Variation in mitochondrial DNA (mtDNA) and Y-chromosome haplotypes was analysed in nine domestic sheep breeds (159 rams) and 21 mouflon ( Ovis musimon) sampled in the East Adriatic. Mitochondrial DNA analyses revealed a high frequency of type B haplotypes, predominantly in European breeds, and a very low frequency of type ...

Osteoarthritis is the most common form of arthritis worldwide and is a major cause of pain and disability in elderly people. The health economic burden of osteoarthritis is increasing commensurate with obesity prevalence and longevity. Osteoarthritis has a strong genetic component but the success of previous genetic studies has been ...

Deletions of the long arm of chromosome 4 detectable by cytogenetic analysis (standard karyotyping), fluorescent in situ hybridisation (FISH), multiplex ligation-dependent probe amplification (MLPA) or comparative genomic hybridisation (CGH) cause 4q- syndrome. Here we describe 3 cases of 4q- syndrome which demonstrate the variations in clinical presentation, diagnosis and prognosis ...

We report on a complete genome scan for quantitative trait loci (QTL) affecting milk protein percentage (PP) in the Italian Holstein-Friesian cattle population, applying a selective DNA pooling strategy in a daughter design. Ten Holstein-Friesian sires were chosen, and for each sire, about 200 daughters, each from the high and ...

Desmoplastic fibroma (DFB) is a benign primary bone tumor that usually occurs in adolescents and young adults. The genetic information on DFB is very limited. We here present cytogenetic, fluorescence in situ hybridization and single nucleotide polymorphism array findings in a case that had a rearrangement involving chromosomes 11 and ...

Aim: There are discrepancies in the reported frequency of Y chromosome microdeletions among Iranian infertile men. The objective of this study was to determine the frequency of Y chromosome microdeletions in an Iranian population with azoospermia and severe oligozoospermia. Methods: Totally, 94 azoospermic and 21 severe oligozoospermic patients were screened ...

We present a 4-year-old Honduran boy with mild neurodevelopmental delays, growth delays, dysmorphic features, and small genitalia. Chromosome analysis initially revealed a single X chromosome and a marker chromosome derived from the short arm of chromosome 9 which was consistent with Turner syndrome as only 1 sex chromosome could be ...

100-Seed weight (100-SW) of soybean is an important but complicated quantitative trait to yield. This study was focus on the quantitative trait loci (QTLs) of soybean 100-SW from 2006 to 2010, using recombination inbred lines population that was derived from a cross between Charleston and Dongnong 594. A total of ...

Genetic studies were undertaken to determine the inheritance and genomic location of uncharacterised seedling resistance to leaf rust, caused by Puccinia hordei, in the barley cultivar Ricardo. The resistance was shown to be conferred by a single dominant gene, which was tentatively designated RphRic. Bulk segregant analysis (BSA) and genetic ...

The aim of this study was to evaluate the efficacy of the PureSperm density gradient centrifugation on the selecting sperm with less chromosomal aneuploidy. Semen samples were obtained from 30 infertile men with teratozoospermia and 15 fertile men with normal semen parameters. The frequencies of numerical chromosomes aberrations were simultaneously ...

BACKGROUND Cat-Eye syndrome (CES) with teratoma has not been previously reported. We present the clinical and molecular findings of a 9-month-old girl with features of CES and also a palpable midline neck mass proved to be an extragonadal mature teratoma, additionally characterized by array comparative genomic hybridization (aCGH). RESULTS High ...

OBJECTIVES: The aim of this study was to investigate the genotoxicity of waterpipe smoking in the lymphocytes of waterpipe smokers using chromosomal aberrations (CAs) assay. MATERIALS AND METHODS: Fifty waterpipe smokers and 18 healthy non-smokers volunteered to participate in the study. Additionally, 18 heavy cigarette smokers were recruited for comparison. ...

In this study, we conducted a genome-wide linkage analysis to identify the quantitative trait loci (QTL) that influence back fat thickness and carcass pH in an F(2) intercross between Landrace and Korean native pigs. Eight phenotypes related with back fat thickness and carcass pH were measured in more than 960 ...

A thirteen year old boy was murdered by a gunshot wound to the head. In order to confirm identity of the boy, samples were sent to the Instituto de Ciencias Forenses de Puerto Rico (PR-ICF) DNA laboratory. Autosomal DNA results exhibited only an X at the Amelogenin locus, whereas the ...

This study presents a framework linkage map based on microsatellite markers for Muscadinia rotundifolia (1n = 20). The mapping population consisted of 206 progeny generated from a cross of two M. rotundifolia varieties, 'Fry' and 'Trayshed'. A total of 884 primers were tested for their ability to amplify markers: 686 amplified and ...

Porokeratosis is a rare disorder of epidermal keratinization that is characterized by the presence of a border called the cornoid lamella. Disseminated superficial porokeratosis (DSP) is a subtype of porokeratosis, which is inherited as an autosomal trait. The first locus for DSP was localized to chromosome 18p11.3, but no causative ...

PURPOSE: Cytogenetic analysis of a pleomorphic adenoma (PA) arising in the major salivary glands, in particular the parotid, is well documented, with chromosome 8 being the most commonly involved aberration, mainly in t(3;8). However, cytogenetic studies of PA in the minor salivary glands (MSGs) are rare and, to the authors' ...

Salt tolerance of rice (Oryza sativa L.) at the seedling stage is one of the major determinants of its stable establishment in saline soil. One population of recombinant inbred lines (RILs, F (2:9)) derived from a cross between the salt-tolerant variety Jiucaiqing and the salt-sensitive variety IR26 was used to ...

OBJECTIVES:: Salt-sensitive hypertension is highly prevalent in postmenopausal women, with approximately 75% of postmenopausal women found to be hypertensive in the US. Insight from surgical menopause (ovariectomized) patients directly links the loss of endogenous estrogens to salt-sensitive hypertension in previously healthy, salt-resistant women. However, controversial benefit of hormone replacement therapy ...

Background: Ring chromosome 18 [r(18)] is a rare constitutional chromosomal aberration syndrome, characterized by dysmorphic face, hypoactivity, short stature and delayed development. Autoimmune thyroiditis and immunoglobulin (Ig) A-deficiency are occasionally associated with chromosome 18 deletion syndromes. Summary: Here we report a 2-year-old male with r(18) syndrome and selective IgA-deficiency (<1.6 ...

Aim:  Despite known association of parental carriers of structural chromosomal rearrangements with a history of recurrent pregnancy loss (RPL), the possibility of having a miscarriage due to an unbalanced chromosomal aberration remains unknown. There has been limited research on the reproductive outcome of such couples. The present study was done ...

Introduction: The aim of this study was to determine if laterality of an absent umbilical artery (AUA) is associated with specific sonographic findings, chromosomal defects or postpartum birth defects. Materials and Methods: In this retrospective cohort study, ultrasound reports and medical records of patients who received an obstetric ultrasound at ...