Causes of variation

Severe congenital neutropenia (SCN) is an exceptionally rare genetic disorder associated with life-threatening bacterial infections. Among the several genetic variations related to SCN, heterozygous mutations in the ELANE gene encoding neutrophil elastase account for approximately 40 - 55% of the genetic causes.

6p vinatisu 29-08-2024 4 1   Download

The proposed research aims to investigate the influences of temperature on the water retention behaviour of deformable unsaturated soil. Volume change caused by temperature variation will be taken into consideration. This research will produce a better understanding and interpretation of thermal effects on SWCCs by providing experimental results for deformable unsaturated soils.

118p runthenight07 01-03-2023 4 3   Download

Understanding the genetic complexity of traits is an important objective of small grain temperate cereals yield and adaptation improvements. Bi-parental quantitative trait loci (QTL) linkage mapping is a powerful method to identify genetic regions that co-segregate in the trait of interest within the research population. However, recently, association or linkage disequilibrium (LD) mapping using a genome-wide association study (GWAS) became an approach for unraveling the molecular genetic basis underlying the natural phenotypic variation.

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Chapter 17 - Process improvement using control charts. After mastering the material in this chapter, you will be able to: Discuss the principles and importance of quality improvement, distinguish between common causes and assignable causes of process variation, sample a process by using rational subgrouping.

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Research objectives: Collect and process the magnetic data from CHAMP satellite and from the magnetic observatories within 6 years (from 2002-2007); study the method to separate magnetic field caused by EEJ from the observed data; identify some parameters of EEJ in all over meridians and study the variation of EEJ in space and time. The variation of EEJ in longitude, latitude and local time.

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Polymerase Chain Reaction is widely held as one of the most important inventions of the 20th century in molecular biology. Small amounts of the genetic material can now be amplified to be able to a identify, manipulate DNA, detect infectious organisms, including the viruses that cause AIDS, hepatitis, tuberculosis, detect genetic variations, including mutations, in human genes and numerous other tasks.

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Diagnostic tests by molecular biology is made for studying the relations among Fusarium species for linking production of proteins, degree of relationship and occurrence of malformation. Determination of proteins for isolates causing-disease by SDS-PAGE explained there’s specific band for each fungus and there are common bands among some isolates of fungi. Since, band with MW 30 KDa represented only in F. proliferatum and F. oxysporum and F. subgluti-nans respectively. This band considered as specific band for these isolates, which released high patho-genisity effect.

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Many disease-causing splicing mutations described in the literature produce changes in splice sites (SS) or in exon-regulatory sequences. The delineation of these splice aberrations can provide important insights into novel regula-tion mechanisms. In this study, we evaluated the effect of patient variations in neurofibromatosis type 1 (NF1) exon 29 and its 5¢SS surrounding area on its splicing process.

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TP53is one of the most commonly mutated genes in human tumours. Variations in the types and frequencies of mutations at different tumour sites suggest that they may provide clues to the identity of the causative mutagenic agent. A useful model for studying humanTP53mutagenesis is the partial human TP53knock-in (Hupki) mouse containing exons 4–9 of humanTP53in place of the corresponding mouse exons.

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Harrison's Internal Medicine Chapter 50. Hirsutism and Virilization Hirsutism and Virilization: Introduction Hirsutism, defined as excessive male-pattern hair growth, affects approximately 10% of women. It usually represents a variation of normal hair growth, but rarely it is a harbinger of a serious underlying condition. Hirsutism is often idiopathic but may be caused by conditions associated with androgen excess, such as polycystic ovarian syndrome (PCOS) or congenital adrenal hyperplasia (CAH) (Table 50-1).

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Medical Implications of Circadian Rhythmicity Prominent circadian variations have been reported in the incidence of acute myocardial infarction, sudden cardiac death, and stroke, the leading causes of death in the United States. Platelet aggregability is increased after arising in the early morning hours, coincident with the peak incidence of these cardiovascular events. A better understanding of the possible role of circadian rhythmicity in the acute destabilization of a chronic condition such as atherosclerotic disease could improve the understanding of the pathophysiology.

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