Mouse coat colour mutations: A molecular genetic resource which spans the centuries

BioEssays ◽  
1991 ◽  
Vol 13 (9) ◽  
pp. 439-446 ◽  
Author(s):  
Ian J. Jackson
Keyword(s):  
Genetic Resource ◽  
Molecular Genetic ◽  
Coat Colour

scholarly journals Redefinition of the Mora Romagnola Pig Breed Herd Book Standard Based on DNA Markers Useful to Authenticate Its “Mono-Breed” Products: An Example of Sustainable Conservation of a Livestock Genetic Resource

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 526
Author(s):  
Silvia Tinarelli ◽  
Anisa Ribani ◽  
Valerio Joe Utzeri ◽  
Valeria Taurisano ◽  
Claudio Bovo ◽  
...  
Keyword(s):  
Value Chain ◽  
Dna Markers ◽  
Genetic Resource ◽  
Coat Colour ◽  
Added Value ◽  
Conservation Strategy ◽  
The North ◽  
Premium Price ◽  
Sustainable Conservation ◽  
Almost All

Mora Romagnola is an autochthonous pig breed, raised in the north of Italy. Mono-breed pork products of this breed are part of important niche value chain that is intrinsically linked to the conservation of this local genetic resources that can only survive due to the premium price that these products can obtain on the market. However, the added value attracts fraudsters that unscrupulously sell mis-labelled Mora Romagnola products, causing consumer distrust that, in turn, undermines the conservation strategy of this breed. To monitor and better characterise this local breed, we phenotyped 826 Mora Romagnola pigs for three breed-specific traits. Then, we genotyped almost all living sows and boars registered to the Herd Book (n. = 357 animals) for polymorphisms in the MC1R and NR6A1 genes (affecting coat colour and vertebral number, respectively). The results were used to re-define the breed descriptors of the Mora Romagnala breed that included information on the allowed genotypes at these two genes. A few pigs that did not carry the allowed genotypes were excluded from its Herd Book. Finally, we evaluated the usefulness of these DNA markers to authenticate Mora Romagnola meat against meat derived from other 11 pig breeds and wild boars. To our knowledge, the Mora Romagnola Herd Book is one of the first examples that established a direct link between a genetic standard of a breed with the possibility to authenticate mono-breed products using DNA markers with the specific purpose to combat frauds and, indirectly, support the conservation of a livestock genetic resource.

scholarly journals Genetic diversity and geographical genetic diversity in Colombian accessions of Lippia alba (Mill.) N.E. Brown

2019 ◽  
Vol 36 (2) ◽  
pp. 46-57
Author(s):  
José Omar Cardona Montoya ◽  
Jaime Eduardo Muñoz
Keyword(s):  
Genetic Diversity ◽  
Genetic Resource ◽  
Spatial Genetic Structure ◽  
Molecular Genetic ◽  
Cultivated Plants ◽  
Average Heterozygosity ◽  
Lippia Alba ◽  
Molecular Genetic Diversity ◽  
Total Dna ◽  
Set Up

Bushy matgrass (Lippia alba, Verbenaceae) is a promising plant genetic resource, by their active compounds. The present document studied the molecular genetic diversity and spatial genetic structure of two contrasting populations of L. alba in Colombia. Eight RAM, evaluated total DNA of 59 accessions of non-cultivated plants collected in two Colombia regions, Chicamocha and Sumapaz. The expected average heterozygosity (or average heterozygosity genetic diversity of Nei) for the sample had low value (0.0≤He=0.2467≤0.5). The values of molecular diversity (MD) indicated values in the range of 0.1219 to 0.3425 for seven RAM. The frequency of variants is based on an effective number of alleles [Ae] and expected heterozygosity [He], genetic diversity by locus (hj=1-p2-q2) had maximum values (near 0.5) in the primers ACA, AG, CGA, and CEC. RAM suitably analyzed Lippia alba as an endemic genetic resource. A DNA bank composed of 59 Colombian accessions from Lippia alba was set up. The analysis of the spatial global structure shows that the subpopulation Sumapaz is structured, whilst the subpopulation Chicamocha, is in the structuring process. The results suggest in all cases the need for implementing: a) exchange of gene-seed, (b) gene banks with maximum genetic variability and c) induce genetic diversity.

scholarly journals Genetic variability of the <i>CRC</i> and <i>MYF4</i> genes in genetic resource, Přeštice Black-Pied pig

2004 ◽  
Vol 47 (3) ◽  
pp. 231-238
Author(s):  
P. Horák ◽  
T. Urban ◽  
J. Dvořák
Keyword(s):  
Molecular Markers ◽  
Genetic Structure ◽  
Genetic Variability ◽  
Genetic Resources ◽  
Genetic Resource ◽  
Molecular Genetic ◽  
Farm Animals ◽  
Sample Population ◽  
Structure Mapping

Abstract. The study of molecular genetic variability in genetic resources of farm animals is necessary for optimal conduct of their breeding and for understanding of relations between molecular markers and traits. The determination of variability in the CRC and the MYF4 genes and the evaluation of associations between these genetic markers and the total number born, the number born alive and the number weaned of piglets, weaning weight of piglets and farrowing interval were carried out in population of 102 Přeštice Black-Pied sows. The frequency of the allele CRCn (0.083) was found out to be markedly lower than the frequency of the allele CRCN and there was observed no sow of homozygous recessive genotype in the investigated sample population. In MYF4 locus, the higher frequency of the MYFB allele was detected (0.711). A significant influence of the CRC gene polymorphism on number of piglets alive born in the 1st and the 1st–6th litters was discovered. In the total number of born piglets the significant disparity were ascertained between the MYF4A/MYF4A and MYF4A/MYF4B, MYF4A/MYF4A and MYF4B/MYF4B sows in the 2nd–6th litters and the 1st–6th litters. The obtained data are exploitable in genetic structure mapping, management of breeding and improvement of this breed and comparison with other pig genetic resources.

Molecular genetic markers for thyroid FNAB

2015 ◽  
Vol 54 (03) ◽  
pp. 94-100 ◽  
Author(s):  
P. B. Musholt ◽  
T. J. Musholt
Keyword(s):  
Genetic Markers ◽  
Thyroid Nodules ◽  
Molecular Genetic ◽  
Genetic Alterations ◽  
Diagnostic Tools ◽  
Ultrasound Screening ◽  
Thyroid Malignancy ◽  
Thyroid Carcinomas ◽  
Molecular Genetic Markers ◽  
The Impact

SummaryAim: Thyroid nodules > 1 cm are observed in about 12% of unselected adult employees aged 18–65 years screened by ultrasound scan (40). While intensive ultrasound screening leads to early detection of thyroid diseases, the determination of benign or malignant behaviour remains uncertain and may trigger anxieties in many patients and their physicians. A considerable number of thyroid resections are consecutively performed due to suspicion of malignancy in the detected nodes. Fine needle aspiration biopsy (FNAB) has been recommended for the assessment of thyroid nodules to facilitate detection of thyroid carcinomas but also to rule out malignancy and thereby avoid unnecessary thyroid resections. However, cytology results are dependent on experience of the respective cytologist and unfortunately inconclusive in many cases. Methods: Molecular genetic markers are already used nowadays to enhance sensitivity and specificity of FNAB cytology in some centers in Germany. The most clinically relevant molecular genetic markers as pre-operative diagnostic tools and the clinical implications for the intraoperative and postoperative management were reviewed. Results: Molecular genetic markers predominantly focus on the preoperative detection of thyroid malignancies rather than the exclusion of thyroid carcinomas. While some centers routinely assess FNABs, other centers concentrate on FNABs with cytology results of follicular neoplasia or suspicion of thyroid carcinoma. Predominantly mutations of BRAF, RET/PTC, RAS, and PAX8/PPARγ or expression of miRNAs are analyzed. However, only the detection of BRAF mutations predicts the presence of (papillary) thyroid malignancy with almost 98% probability, indicating necessity of oncologic thyroid resections irrespective of the cytology result. Other genetic alterations are associated with thyroid malignancy with varying frequency and achieve less impact on the clinical management. Conclusion: Molecular genetic analysis of FNABs is increasingly performed in Germany. Standardization, quality controls, and validation of various methods need to be implemented in the near future to be able to compare the results. With increasing knowledge about the impact of genetic alterations on the prognosis of thyroid carcinomas, recommendations have to be defined that may lead to individually optimized treatment strategies.

Molecular genetic background of haemophilia A patients with discrepancy between one-stage and two-stage factor VIII assays

2010 ◽  
Vol 30 (S 01) ◽  
pp. S153-S155
Author(s):  
D. Delev ◽  
S. Pahl ◽  
J. Driesen ◽  
H. Brondke ◽  
J. Oldenburg ◽  
...  
Keyword(s):  
Factor Viii ◽  
Genetic Background ◽  
Molecular Genetic ◽  
Haemophilia A ◽  
Two Stage ◽  
One Stage

Abnormal Processing of the Glycoprotein IIb Transcript due to a Nonsense Mutation in Exon 17 Associated with Glanzmann’s Thrombasthenia

1995 ◽  
Vol 73 (05) ◽  
pp. 756-762 ◽  
Author(s):  
Yoshiaki Tomiyama ◽  
Hirokazu Kashiwagi ◽  
Satoru Kosugi ◽  
Masamichi Shiraga ◽  
Yoshio Kanayama ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Molecular Genetic ◽  
Genetic Defect ◽  
Nucleotide Sequence Analysis ◽  
Type I ◽  
Normal Amount ◽  
Immunoblot Assay ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
Pcr Products

SummaryWe analyzed the molecular genetic defect responsible for type I Glanzmann’s thrombasthenia in a Japanese patient. In an immunoblot assay using polyclonal anti-GPIIb-IIIa antibodies, some GPIIIa (15% of normal amount) could be detected in the patient’s platelets, whereas GPIIb could not (<2% of normal amount). Nucleotide sequence analysis of platelet GPIIb mRNA-derived polymerase chain reaction (PCR) products revealed that patient’s GPIIb cDNA had a 75-bp deletion in the 3’ boundary of exon 17 resulting in an in-frame deletion of 25 amino acids. DNA analysis and family study revealed that the patient was a compound heterozygote of two GPIIb gene defects. One allele derived from her father was not expressed in platelets, and the other allele derived from her mother had a 9644C → T mutation which was located at the position -3 of the splice donor junction of exon 17 and resulted in a termination codon (TGA). Moreover, quantitative analysis demonstrated that the amount of the abnormal GPIIb transcript in the patient’s platelets was markedly reduced. Thus, the C → T mutation resulting in the abnormal splicing of GPIIb transcript and the reduction in its amount is responsible for Glanzmann’s thrombasthenia.

HLA Genotype of Patients with Severe Haemophilia A due to Intron 22 Inversion with and without Inhibitors of Factor VIII

1997 ◽  
Vol 77 (02) ◽  
pp. 238-242 ◽  
Author(s):  
J Oldenburg ◽  
J K Picard ◽  
R Schwaab ◽  
H H Brackmann ◽  
E G D Tuddenham ◽  
...  
Keyword(s):  
Factor Viii ◽  
Major Gene ◽  
Statistical Significance ◽  
Strong Association ◽  
Molecular Genetic ◽  
Single Mutation ◽  
Severe Haemophilia ◽  
Extended Haplotype ◽  
Intron 22 Inversion ◽  
Hla Genotype

SummaryMolecular genetic studies have shown that development of antibodies to factor VIII (inhibitors) occurs most frequently in patients with severe haemophilia due to major gene lesions including inversions, stop codons and large deletions. Previous studies of HLA type were performed on inhibitor and non-inhibitor patients with diverse uncharacterised mutations which may have confounded detection of significant associations. We therefore selected a group of patients with a single mutation type, the prevalent intron 22 inversion, with or without inhibitors, to determine HLA genotype. Seventy-one such patients, 42 without and 29 with inhibitors (13 high, 9 low and 7 transient responders) were genotyped for MHC Class I HLA-A, -B, -C and Class II HLA-DQA, -DQB and -DRB loci. No strong correlation of any HLA-allele to inhibitor or non-inhibitor status was found. However, alleles of the haplotype HLA-A3, HLA-B7, HLA-C7, HLA-DQA0102, HLA-DQB0602, HLA-DR15 occurred more often in inhibitor patients. Since the alleles of this extended haplotype are common in the North European population only a very strong association would achieve statistical significance. Further studies of groups of patients similar to those studied here will be needed to confirm or exclude this association.

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