The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population

2005 ◽  
Vol 180 (1) ◽  
pp. 155-160 ◽  
Author(s):  
Dorte Damgaard ◽  
Mogens L. Larsen ◽  
Peter H. Nissen ◽  
Jesper M. Jensen ◽  
Henrik K. Jensen ◽  
...  
Author(s):  
Я.А. КАБИЦКАЯ ◽  
Л.А. КАЛАШНИКОВА ◽  
Е.Г. БОЙКО ◽  
А.Е. КАЛАШНИКОВ

Для организации селекционно-племенной работы необходимо уточнение данных о родстве потомков крупного рогатого скота молочного и мясного направлений продуктивности при помощи молекулярно-генетических методов. Для осуществления этой задачи производилось сравнение данных первичного учета о родстве животных из информационно-аналитической системы (ИАС) СЕЛЭКС с менделевским наследованием генотипов от родителей потомкам, определенных при помощи ДНК тестирования. В качестве определения родства использовался простой и доступный метод анализа микросателлитных локусов ядерной ДНК. Для выполнения исследований создан и систематизирован банк образцов ДНК животных (крупный рогатый скот молочного и мясного направлений продуктивности) в количестве 4716 голов. Показана степень ошибочных записей в родословной потомков по данным первичного учета и результатов генотипирования на адаптированной панели 15 микросателлитных участков ядерного генома животных предприятий Тюменской и Курганской областей, а также ХМАО-Югра. Из 531 «троек» (мать-потомок-отец) животных молочного направления продуктивности выявлено не менее 88% совпадений по обоим родителям. По родителям для черно-пестрой породы выявлено до 3% ошибочных записей в родословной потомков, для голштинской – до 11%. Для мясных пород животных величина ошибок по генетической идентификации для абердин-ангус составила до 10% и герефорд – до 25%. Установлено, что микросателлиты являются инструментом для определения достоверности происхождения по международному стандарту и проверки данных первичной регистрации зоотехнических данных и генетической идентификации крупного рогатого скота молочного и мясного направлений продуктивности. It is necessary to clarify data on the relationship of cattle progeny in the directions of dairy and meat production by molecular genetic methods and organization of breeding work. To accomplish this task, a comparison of primary registration data on the relationship of animals from the information-analytical system (IAS) was carried out taking into computation the Mendelian inheritance of genotypes from parents to offspring identifi ed using DNA testing. A simple and affordable method for analyzing micro-satellite nuclear DNA loci was used as a defi nition of genetic relationships. A genetic bank of cattle samples was created and systematized for 4716 animals for research purposes. The extent of incorrect entries in the pedigree of descendants is given according to the primary counting data and the results of genotyping in the panel of 15 micro-satellite loci for animal enterprises of the Tyumen and Kurgan regions, as well as the Khanty-Mansi Autonomous Okrug-Yugra was observed. At least 88% of the matches were found for both parents of 531 “triples“ (mother-offspringfather) animals of the milk cattle. Up to 3% of incorrect entries in the pedigree of offspring for the black-motley breed and up to 11% for Holstein were identifi ed for their parents. The genetic identifi cation errors for meat breeds for Aberdeen Angus was achieved in 10% and Hereford to 25%. It is established that micro-satellites are a tool for determining the accuracy of origin, according to the worldwide quality standard. They are suitable for verifying primary zoo-technical data and genetic identifi cation of dairy and beef cattle.


2021 ◽  
pp. 41-48
Author(s):  
P. G. Labazanova ◽  
M. V. Budanova ◽  
I. I. Burdina ◽  
S. B. Zapirova ◽  
M. L. Mazo ◽  
...  

‘Mammographic density’ (MD) is a concept that has entered medical practice since 2017. as a marker of breast cancer risk factor (BC) according to the international classifiation of NCCN. The term reflcts the degree of severity of benign diffuse breast dysplasia in women of post-reproductive age. MD is determined by the ratio of stromal, epithelial, and adipose tissue. According to the literature, in young women, high MD limits the possibilities of X-ray mammography, reducing its effectiveness in oncomammoscreening, leading to the detection of advanced forms of breast cancer. Post-reproductive women with high MD are more likely to develop breast cancer than those with low MD. In this regard, MD is of particular interest for studying its role in oncogenesis. Recent molecular genetic studies of the differences between high and low MD explain the main biological reasons why post-reproductive women with dense breast structure are at a higher risk of developing breast cancer. The aim is to identify the factors that inflence the relationship of MD with the risk of developing breast cancer based on a comparative analysis of molecular genetic studies and radiological manifestations of MD of different severity and to identify the factors that contribute to the formation of MD variants.


2006 ◽  
Vol 7 (3) ◽  
pp. 132
Author(s):  
T. Freiberger ◽  
H. Grombirikova ◽  
L. Kopalkova ◽  
P. Zapletalova ◽  
O. Letocha ◽  
...  

2014 ◽  
Vol 65 (1) ◽  
pp. 87-97
Author(s):  
J.A. Olfati ◽  
H. Samizadeh ◽  
Gh. Peyvast ◽  
B. Rabiei ◽  
S.A. Khodaparast

AbstractThis study investigated the relationship of morphological and molecular genetic distance with hybrid performance and heterosis in cucumber in an attempt to make use of genetic distance in predicting hybrid performance. The results of this study showed that GD, in general, correlated poorly with heterosis and SCA. Results showed that the mean values of the hybrids were significantly larger or smaller for many traits when compared with the mean of parental lines, indicating that heterosis was present for these traits. In next step we compare inter group hybrids versus intra group hybrids. This test showed that intra group hybridization although increased the yield and yield component but decrease some fruit quality such as fruit color and shape.


1992 ◽  
Vol 102 (5) ◽  
pp. 1612-1619 ◽  
Author(s):  
G.Johan A. Offerhaus ◽  
Eimert P. De Feyter ◽  
Cornelis J. Cornelisse ◽  
Kasper W.F. Tersmette ◽  
Jeffrey Floyd ◽  
...  

Author(s):  
E. A. Klimanova ◽  
T. V. Konovalova ◽  
V. A. Andreeva ◽  
O. S. Korotkevich ◽  
V. L. Petukhov ◽  
...  

The assessment of the gene pool and phenofund of agricultural breeds is an issue in livestock breeding. The accuracy of molecular genetic methods is much higher than phenotypic observation in order to improve breeds. It is necessary to establish relationship between the genotype and the desired trait for their successful application. Therefore, the purpose of our study was to study the relationship of genotypes at the β-Lg locus with some biochemical blood parameters in Romanov sheep. The relationship of genotypes at the β-Lg locus with the amount of albumin, urea and uric acid in Romanov sheep was studied. On a population of 23 sheep of the Romanov breed, we studied the polymorphism of the β-lactoglobulin gene. Blood sampling was carried out from sheep according to standard methods. The analysis was performed in the laboratory of ecological and veterinary genetics and biochemistry of the Novosibirsk State Agrarian University. Standard kits for biochemical studies were used for the analysis. The level of biochemical parameters was determined using a Photometer 5010 V5 + biochemical analyzer. DNA isolation was carried out according to the standard procedure. To establish genotypes, the PCR-RFLP method was used. It was found that in the Siberian population of Romanov sheep the β-LGA allele is more common than β-LGB. In homozygous B / B animals, the albumin concentration was 1.2 times higher (P <0.05) than in individuals with the A / A genotype. No relationship was found between the β-Lg genotypes and the amount of urea and uric acid in the blood.


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