About Careers MedBlog Contact us
Medindia LOGIN REGISTER
Advertisement

1000 New Genetic Variants Discovered in Blood Groups

by Dr. Trupti Shirole on January 28, 2017 at 8:01 AM
Font : A-A+

 1000 New Genetic Variants Discovered in Blood Groups

Never before has there been a worldwide mapping of blood group genes in healthy individuals. Most previously known blood group variants were discovered when a blood transfusion failed, i.e. when it didn't work between the donor and the recipient.

1,000 new mutations in the blood group genes: that is what physician and former programmer Mattias Möller found in his research study in which he developed new software and investigated blood group genes in 2,504 people. This discovery from Lund University in Sweden was published recently in the journal Blood Advances.

Advertisement


Genomes from 2,504 people

The international project 1,000 Genomes is so far the world's largest mapping of human genetic variants. By creating a new computer program, Mattias Möller processed the genomes of 2,504 people. He imported these genomes to his newly developed database Erythrogene, and matched them against previously known genetic variants. The result was the discovery of 1000 hitherto unknown mutations which could have a negative effect in the case of blood transfusions, for example.
Advertisement

"I started from the genes instead, to find variations in DNA which might give rise to a new antigen*, likely to cause problems in case of transfusion, for example", explains Mattias Möller, doctoral student at the Department of Laboratory Medicine.

Mismatch can lead to death

On the surface of the red blood cells are proteins and sugar molecules, in which small differences give rise to different antigens. The ability to identify and match blood group types is important for blood transfusions, but also in pregnancy and before certain types of transplantion.

A transfusion with mismatched blood can lead to a transfusion reaction. This type of reaction can be mild and barely noticeable, or so strong that the blood cells rupture and, in the worst cases, the patient dies.

Mattias Möller's study showed that 89% of the genetic variants were previously known, but among the remaining 11% were a total of 1,000 different mutations which were absent from official catalogues of known blood group variants.

"Of course not all variants lead to new antigens. But we need to go on and conduct further analyses to investigate how the genetic expression changes, i.e. how the molecules on the surface of the cell are affected".

Undiscovered antigens in Africa

There are currently 352 mapped antigens, but the research has so far mainly focused on populations in Europe and North America. A future research field is Africa, where there is greater variation between different population groups. As research on African populations increases, in combination with blood transfusions becoming more common there, many new antigens are likely to be discovered.

"The new online database enables researchers to study a specific blood group and see where in the world it occurs. It has been incredibly exciting to combine my knowledge as a programmer and researcher to design this database in a format which is easy to use in transfusion medicine. Now researchers can dig deeper into the results, and it is also easy to extend the database with other genes responsible for human disease or data from new major genetic mapping projects", concludes Mattias Möller.

Fact box

An antigen is a part of a molecule which can have various functions on the surface of the cell, such as transporting necessary nutrients or signalling. Different individuals express different antigens, and if cells with a certain antigen are transferred to a person who does not have the same, which can happen in the case of transfusion or transplant, this can cause an immune reaction, such as rapid breakdown of red blood cells or rejection of the transplanted organ.

Database: http://www.erythrogene.com

The 1000 Genomes project was completed in 2015 and provides the largest public catalogue of human genetic variation in the world so far.

Source: Eurekalert
Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
What's New on Medindia
Test  Your Knowledge on Heart
Test Your Knowlege on Genes
Obesity in Teens Make Inroads into Early Atrial Fibrillation
View all
Recommended Reading
News Archive
Date
Category
Advertisement
News Category

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.

More News on:
Blood Groups Thalassemia Genetics and Stem Cells Christianson Syndrome Blood in Stools - Symptom Evaluation Bombay Blood Group How Do Viruses Mutate and Why Does it Matter? 

Most Popular on Medindia

Hearing Loss Calculator Blood Donation - Recipients Turmeric Powder - Health Benefits, Uses & Side Effects Sinopril (2mg) (Lacidipine) Blood Pressure Calculator Find a Hospital Accident and Trauma Care Pregnancy Confirmation Calculator Selfie Addiction Calculator Loram (2 mg) (Lorazepam)
This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use
×

1000 New Genetic Variants Discovered in Blood Groups Personalised Printable Document (PDF)

Please complete this form and we'll send you a personalised information that is requested

You may use this for your own reference or forward it to your friends.

Please use the information prudently. If you are not a medical doctor please remember to consult your healthcare provider as this information is not a substitute for professional advice.

Name *

Email Address *

Country *

Areas of Interests