نتایج جستجو برای: polymorphism carrier detection

تعداد نتایج: 735034  

Journal: :Journal of clinical pathology 1987
E G Tuddenham E Goldman A McGraw P B Kernoff

Restriction fragment length polymorphisms (RFLPs) within or close to the factor VIII locus are very useful for genetic linkage analysis. Such RFLPs allow a mutant allele to be tracked in a family, segregating haemophilia A even when, as is usually the case, the precise mutation causing failure to synthesise factor VIII is unknown. To date two markers tightly linked to the factor VIII locus have...

Journal: :دامپزشکی 0
حمیدرضا عزیزی استاد یار گروه پاتوبیولوژی،دانشکده دامپزشکی،دانشگاه شهرکرد میلاد عادل فارغ التحصیل دکتری حرفه ای،دانشکده دامپزشکی،دانشگاه شهرکرد فضل الله صالحی فارغ التحصیل دکتری حرفه ای،دانشکده دامپزشکی،دانشگاه شهرکرد احمدرضا صفیان فارغ التحصیل دکتری حرفه ای،دانشکده دامپزشکی ،دانشگاه شهرکرد

in order to compare pcr technique with smear method to find out theileria annulata in the cows carrier,cattle over one year was referred to the slaughter, samples were taken randomly since february 88 till may 89. we took blood from ear vein, then fixed with methanol & colored with gimsa at least we sarched for parasits under objective lenses (100x). also for pcr,we took 9ml blood from jagular ...

Journal: :Clinical chemistry 2007
Arnab Gupta Mahua Maulik Poonam Nasipuri Ishita Chattopadhyay Shyamal K Das Prasanta K Gangopadhyay Kunal Ray

BACKGROUND Wilson disease (WD) is an autosomal recessive disorder caused by defects in the ATPase, Cu(2+) transporting, beta-polypeptide gene (ATP7B) resulting in accumulation of copper in liver and brain. WD can be thwarted if detected at a presymptomatic stage, but occasional recombination during carrier detection with dinucleotide repeat markers flanking the WD locus may lead to faulty diagn...

2014
Hediyeh Karimi Rubiyah Yusof Rasoul Rahmani Hoda Hosseinpour Mohammad T Ahmadi

: The distinctive properties of graphene, characterized by its high carrier mobility and biocompatibility, have stimulated extreme scientific interest as a promising nanomaterial for future nanoelectronic applications. In particular, graphene-based transistors have been developed rapidly and are considered as an option for DNA sensing applications. Recent findings in the field of DNA biosensors...

Journal: :Blood 1989
J B Graham G R Kunkel G S Tennyson S T Lord D M Fowlkes

A DNA polymorphism in the coding region of coagulation factor IX--potentially valuable for carrier detection, prenatal diagnosis, and population studies--was described in 1985. It had been discovered with monoclonal antibodies that distinguish between threonine and alanine as the 148th residue of the peptide. Its use as a diagnostic tool has been limited because threonine-containing factor IX (...

Journal: :Vision Research 2000
Steven C Dakin Isabelle Mareschal

We consider how the detection of second-order contrast structure depends on the orientation and spatial frequency of first-order luminance structure. For patterns composed of a bandpass noise carrier multiplied by a contrast envelope function, we show that sensitivity to the envelope varies in proportion to the spatial frequency of the carrier. For oriented carriers at low spatial-frequencies, ...

2012
Sanjay Pandey Sweta Pandey Rahasya Mani Mishra Renu Saxena

Xmn1 polymorphism is a known factor, which increases fetal haemoglobin production. Among the inherited disorders of blood, thalassaemia and Sickle Cell Diseases contributes to a major bulk of genetic diseases in India. Our aim was to verify the role of the Xmn1 polymorphism as a modulating factor in sickle cell patients and frequency of the polymorphism in Indian sickle cell patients. 60 sickle...

2017
Malinee Pongsavee Kamol Wisuwan Danai Tiwawech

Background: Breast cancer is a major public health problem around the world, including Thailand and it has the highest ranking among female cancer. Currently, the diversity or polymorphism of ERCC1 gene (excision repair cross-complementary group 1 gene or ERCC1) was reported to associate with an increased risk of breast cancer. This study aims to investigate the relationship between ERCC1 polym...

2016
Tomasz Nowak Paweł Niemiec Sylwia Górczyńska-Kosiorz Anna Balcerzyk Tomasz Iwanicki Jolanta Krauze Wladyslaw Grzeszczak Anna Ochalska-Tyka Joanna Iwanicka Iwona Zak

Purpose. Single nucleotide polymorphisms of the CYBA gene may modify the risk of coronary artery disease (CAD). The aim of the present study was to investigate whether the (⁎)49A>G (rs7195830) polymorphism is associated with CAD. Materials and Methods. CYBA gene (⁎)49A>G polymorphism was determined in 481 subjects: 242 patients with premature CAD and 239 age and sex matched controls using the f...

Recently, inflammation has been found to be a significant factor in the development of Schizophrenia (SCZ). The aim of the present research was to investigate whether interleukin-33 (IL-33, OMIM: 608678) gene polymorphism (rs11792633, C/T) is associated with the development of SCZ or not.DNA was isolated from the serum of 70 patients with SCZ and 70 healthy controls. The PCR based method was us...

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