Related Experiment Video

Updated: Apr 28, 2026

Generating Genetically Modified Plasmodium berghei Sporozoites
10:16

Generating Genetically Modified Plasmodium berghei Sporozoites

Published on: May 5, 2023

1.8K

Familial Mediterranean fever in Georgia

K Pagava1, B Rauscher1, I A Korinteli1

  • 1Tbilisi State Medical University, Georgia; ViennaLab Diagnostics, Vienna, Austria; Institute of Clinical Chemistry and Laboratory Medicine, LKH Steyr, Austria.

Georgian Medical News
|June 19, 2014
PubMed

Insights

Familial Mediterranean Fever (FMF) carrier rates in Georgia were found to be remarkably high at 15.3% among newborns. This study highlights the need for increased FMF awareness and genetic testing availability in the region.

Area of Science:

  • Genetics
  • Autoinflammatory Disorders
  • Population Health

Background:

  • Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disease.
  • Mutations in the MEFV gene cause FMF.
  • High FMF carrier rates are documented in Sephardic Jews, Turks, Armenians, and Arab populations.

Purpose of the Study:

  • To investigate the prevalence of MEFV mutations in Georgia, where studies were lacking.
  • To establish baseline carrier rates for FMF in the Georgian population.

Main Methods:

  • DNA samples from 202 unselected newborns in Tbilisi, Georgia were analyzed.
  • Multiplex PCR and FMF StripAssay were used to detect twelve common MEFV mutations.
  • Analysis was performed on DNA from dried blood spots on filter cards.

Main Results:

  • A significant MEFV mutation carrier rate of 15.3% was identified.
  • Thirty samples were heterozygous, and one was compound heterozygous or carried a complex allele.
  • The most prevalent mutations were E148Q (15x), M680I G/C (5x), and M694V (4x).

Conclusions:

  • The carrier rate of MEFV mutations in Georgia is notably high.
  • Increased awareness and accessibility of FMF genetic testing are recommended for Georgia.
  • These findings contribute to understanding FMF epidemiology in Caucasian populations.

More Related Videos

An Allelotyping PCR for Identifying Salmonella enterica serovars Enteritidis, Hadar, Heidelberg, and Typhimurium12:18

An Allelotyping PCR for Identifying Salmonella enterica serovars Enteritidis, Hadar, Heidelberg, and Typhimurium

Published on: July 22, 2011

24.2K
CRISPR/Cas9 Gene Editing to Make Conditional Mutants of Human Malaria Parasite P. falciparum09:25

CRISPR/Cas9 Gene Editing to Make Conditional Mutants of Human Malaria Parasite P. falciparum

Published on: September 18, 2018

9.7K

Related Concept Videos

Patterns of Fever01:26

Patterns of Fever

Before understanding the types and patterns of fever, it is essential to know its phases.
4.8K
Types of Fever01:25

Types of Fever

Fever can be triggered by several factors, including infections, nervous system disorders, certain cancers, blood diseases like leukemia, embolism, thrombosis, heatstroke, dehydration, surgical trauma, crushing injuries, and allergic reactions.
Here are the different types of fever:
1.7K
Increased Body Temperature01:25

Increased Body Temperature

A body temperature above  38°C  (100.4 °F) is known as fever or pyrexia, and a person with fever is termed 'febrile.' Typically, the hypothalamus, a part of the brain that acts as the body's thermostat, regulates body temperature through a thermoregulatory setpoint. It receives signals from cold and warm thermal receptors throughout the body and adjusts the body's temperature accordingly. Fever occurs when this hypothalamic setpoint is altered, usually in...
6.4K
Methods of reducing fever01:22

Methods of reducing fever

The signs and symptoms of fever include hot and dry skin, flushed face, thirst, muscle aches, anorexia, headache, tachycardia, tachypnea, and fatigue. Elevated body temperature is reduced using two methods: pharmacological and nonpharmacological. Proper identification and treatment of the root cause of a fever is of utmost importance.
Pharmacological Methods of Reducing Fever:
1.6K
Cytomegalovirus Disease01:27

Cytomegalovirus Disease

Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
96
Myocarditis II: Clinical Features and Diagnostic Tests01:27

Myocarditis II: Clinical Features and Diagnostic Tests

Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
492