New approach estimates the average number of mutations per person that cause disease when inherited from both parents
Humans carry an average of one to two mutations per person that can cause severe genetic disorders or prenatal death when two copies of the same mutation are inherited, according to estimates published today in the journal Genetics. The new numbers were made possible by a long-term collaboration between medical researchers and a unique community that has maintained detailed family histories for many generations.
"These records offered a fantastic opportunity to estimate disease mutation carrier rates in a new way that disentangles the effects of genetic and socioeconomic factors," said lead author Ziyue Gao of the University of Chicago.
Most genetic disorders that result in sterility or childhood death are caused by recessive mutations, DNA sequence variants that are harmless when a person carries only one copy. But if such mutations are present at both copies (where one copy was inherited from each parent), they can cause devastating diseases like cystic fibrosis.
Recessive disease mutations are much more common than those that are harmful even in a single copy, because such "dominant" mutations are more easily eliminated by natural selection. But exactly how common are the recessive disease-causing mutations in humans?
Previous efforts to estimate the number have relied on studies of disease in children born to related parents. In this method, the increased rates of childhood mortality and disease in these families are assumed to be due to recessive mutations. But this method mixes up the effects of genetics and socioeconomic factors.
For example, in some places, marriage between close relatives correlates with poverty. In those cases, children with related parents can have higher disease and death rates simply because their families suffer from poor nutrition or lack of access to medical care. "There are many different non-genetic factors that can bias this kind of approach," said Gao.
But the new method elegantly sidesteps this problem. It relies on the fact that the Hutterites, a religious community that settled in North America in the 1870s, keep meticulous genealogical records and live a communal lifestyle that ensures uniform access to healthcare and food.
Co-author Carole Ober of the University of Chicago has worked closely with a group of Hutterites from South Dakota for two decades, studying genetic contributions to disease using a large 13-generation family tree that traces the ancestry of more than 1,500 living people.
Molly Przeworski, a population geneticist at Columbia University, realized that this ancestry tree could be used to estimate the number of recessive disease mutations carried by the group's founders in the 18th and 19th century. This calculation was possible because Ober's team and other medical researchers had compiled comprehensive records on the frequency of disorders that cause sterility or childhood death in the study population.
Visit link:
Hidden burden: Most people carry recessive disease mutations
- Atossa Genetics: a focused pure play breast health testing company with huge potential to grow - January 3rd, 2013 [January 3rd, 2013]
- Genetics Introduction(with commentary)! - Video - January 19th, 2013 [January 19th, 2013]
- Genetics of Sickle Cell Disease - Video - January 15th, 2014 [January 15th, 2014]
- Atossa Genetics (ATOS) Multiple Bottom Pattern - Video - January 19th, 2014 [January 19th, 2014]
- How to plan an effective and efficient population genetics sampling strategy - Video - January 21st, 2014 [January 21st, 2014]
- Attack of the B-Team Advanced Genetics Mod Tutorial Ep.1 - Video - February 9th, 2014 [February 9th, 2014]
- Scientific Evidence for Creation CSE BIBLE FORUM Origins 1110 Creation Genetics - Video - February 9th, 2014 [February 9th, 2014]
- Genetics - Wikipedia, the free encyclopedia - April 10th, 2014 [April 10th, 2014]
- Is It Genetics Or Are You A Loser? - Video - April 10th, 2014 [April 10th, 2014]
- Abbas Ravji - Keyword Genetics Review - Video - April 10th, 2014 [April 10th, 2014]
- Minecraft: Attack of Mojo Jojo Episode 3 - Thermal Advanced Genetics! - Video - April 10th, 2014 [April 10th, 2014]
- Q&A with Dr. Rudy Tanzi: Alzheimer's & Genetics - Video - April 10th, 2014 [April 10th, 2014]
- Dr Shane McKee, Regional Medical Genetics Unit: Joining Information Together for Better Care - Video - April 10th, 2014 [April 10th, 2014]
- Neil deGrasse Tyson on Genetics - Video - April 10th, 2014 [April 10th, 2014]
- Timothytrespas-Genetics, chromaphores=nanoelectronics! Targeted Individual science. - Video - April 15th, 2014 [April 15th, 2014]
- Advanced Genetics mod review have any mob's ability in minecraft - Video - April 15th, 2014 [April 15th, 2014]
- VaderOG Genetics Week 5 HD1080p - Video - April 15th, 2014 [April 15th, 2014]
- Human Mutation Lora Bean, Madhuri Hegde, and Stuart Tinker - Video - April 15th, 2014 [April 15th, 2014]
- Keyword Genetics - Video - April 15th, 2014 [April 15th, 2014]
- Keyword Genetics | Use My Free System To Buy Keyword Genetics - Video - April 15th, 2014 [April 15th, 2014]
- Keyword Genetics | Keyword Genetics Review - Video - April 15th, 2014 [April 15th, 2014]
- Let's play Mace Griffin: Bounty Hunter - 14 - Genetics Lab - Video - April 15th, 2014 [April 15th, 2014]
- Genetics: The Roots of Life - Video - April 15th, 2014 [April 15th, 2014]
- Keyword Genetics Review - Should You Buy Keyword Genetics? - Video - April 15th, 2014 [April 15th, 2014]
- Jurassic Genetics | Prototype Tech Demo ... Thing. - Video - April 15th, 2014 [April 15th, 2014]
- RR Let's Play - S02E33 - Advanced Genetics - Video - April 15th, 2014 [April 15th, 2014]
- Genetics and law of probability when order specified and not specified - Video - April 15th, 2014 [April 15th, 2014]
- Let's Play The Sims 3 - Perfect Genetics - Episode 37 - Video - April 15th, 2014 [April 15th, 2014]
- Long overdue skunkhouse genetics update - Video - April 15th, 2014 [April 15th, 2014]
- Let's Play The Sims 3 - Perfect Genetics - Episode 38 - Video - April 16th, 2014 [April 16th, 2014]
- Hybrid Turkeys / Hendrix Genetics - Animal Aubsers - Office Invasion - Apr 11th, 2014 - Video - April 16th, 2014 [April 16th, 2014]
- Attack of the Bteam Mod Tutorials - Advanced Genetics - Video - April 16th, 2014 [April 16th, 2014]
- Keyword Genetics Review | Watch Video Keyword Genetics Demo - Video - April 16th, 2014 [April 16th, 2014]
- Genetics and Inheritance - Video - April 17th, 2014 [April 17th, 2014]
- Introduction to Population Genetics - Lynn Jorde (2014) - Video - April 17th, 2014 [April 17th, 2014]
- Laser Genetics ND1 SubZero Tactical Laser Sight - Video - April 17th, 2014 [April 17th, 2014]
- How to solve genetics problems using factorials - Video - April 17th, 2014 [April 17th, 2014]
- Keyword Genetics Review - How to use it? - Video - April 17th, 2014 [April 17th, 2014]
- Theo's Strain Reviews Lemon Skunk from DNA Genetics - Video - April 17th, 2014 [April 17th, 2014]
- Gerbil Colors And Genetics - Video - April 17th, 2014 [April 17th, 2014]
- Simons Institute Open Lecture: Evolutionary Genetics in the Crush of Genomics - Video - April 17th, 2014 [April 17th, 2014]
- NewLink Genetics Presents Data at the AACR 2014 Annual Meeting - Video - April 17th, 2014 [April 17th, 2014]
- The Future of Genetics in Our Everyday Lives - SXSW Interactive 2014 (Full Session) - Video - April 18th, 2014 [April 18th, 2014]
- Laser Genetics ND5 Mini Subzero Long-distance Laser Illuminator - Video - April 18th, 2014 [April 18th, 2014]
- Shaman Genetics @ Spannabis 2014 (Espaol) - Video - April 18th, 2014 [April 18th, 2014]
- Attack of the Silverswords! Episode 11- Advanced Genetics - Video - April 18th, 2014 [April 18th, 2014]
- Mischa Janiec - Polska Genetics vs Kenzo Karagz - Turkesteron (Natural Bodybuilding) GNBF 2013 - Video - April 19th, 2014 [April 19th, 2014]
- Class 30- 4/14/2014 - Video - April 19th, 2014 [April 19th, 2014]
- Silvia Paracchini, PhD: Recent Advances in the Genetics of Dyslexia - Video - April 19th, 2014 [April 19th, 2014]
- Holistic Alzheimer's Video Series: Genetics NOT the prime factor - Video - April 21st, 2014 [April 21st, 2014]
- The Role of Genetics in My Cancer - Video - April 21st, 2014 [April 21st, 2014]
- My Bad Genetics - Week 4 of Powerlifting - Video - April 21st, 2014 [April 21st, 2014]
- Minecraft: Feed The Beast Monster: Advanced Genetics! (Part 18) (Dutch Commentary) - Video - April 21st, 2014 [April 21st, 2014]
- Genetics Practice Problems - University of Cincinnati - April 22nd, 2014 [April 22nd, 2014]
- Introduction to genetics - Wikipedia, the free encyclopedia - April 22nd, 2014 [April 22nd, 2014]
- How Genetics Help Understand Aging: Martin Denzel at TEDxJacobsUniversity - Video - April 22nd, 2014 [April 22nd, 2014]
- European Population Genetics: Haplogroup R-M343 Part 2 - Video - April 22nd, 2014 [April 22nd, 2014]
- Attack Of The B Team Advanced Genetics Tutorial - Video - April 22nd, 2014 [April 22nd, 2014]
- Skunk House Genetics - Video - April 22nd, 2014 [April 22nd, 2014]
- Let's Play The Sims 3 - Perfect Genetics Challenge - Episode 15 - Video - April 24th, 2014 [April 24th, 2014]
- Brandon Lilly - Genetics - Video - April 24th, 2014 [April 24th, 2014]
- Can You Overcome Genetics? - Video - April 24th, 2014 [April 24th, 2014]
- My Parkinson's Story: Genetics - Video - April 24th, 2014 [April 24th, 2014]
- How Genetics Determine Your Baby's Gender - Video - April 24th, 2014 [April 24th, 2014]
- Station genetics manager sad to leave, happy with progress - April 25th, 2014 [April 25th, 2014]
- Station genetics manager sad to leave - April 25th, 2014 [April 25th, 2014]
- Genetics | The Biology Corner - April 25th, 2014 [April 25th, 2014]
- Chaput Farms Improves Herd Genetics with CLARIFIDE - Video - April 26th, 2014 [April 26th, 2014]
- Cancer Genetics (NASDAQCM: CGIX) - RedChip Global Online CEO Conference - Video - April 26th, 2014 [April 26th, 2014]
- SkunkHouse Genetics update! - Video - April 26th, 2014 [April 26th, 2014]
- VaderOG Genetics Week 7 HD1080p - Video - April 26th, 2014 [April 26th, 2014]
- 23andMe Research: Understanding Genetics - Video - April 26th, 2014 [April 26th, 2014]
- Cancer and Genetics: Linda's Story - Video - April 26th, 2014 [April 26th, 2014]
- Laser Genetics ND3 Subzero Review - Video - April 26th, 2014 [April 26th, 2014]
- Let's Play The Sims 3 - Perfect Genetics Challenge - Episode 13 - Video - April 26th, 2014 [April 26th, 2014]
- R-Kiem Seeds Indoor Grow for Selecting Genetics - Video - April 27th, 2014 [April 27th, 2014]
- Let's Play The Sims 3 - Perfect Genetics Challenge - Episode 17 - Video - April 29th, 2014 [April 29th, 2014]
- Minecraft Tutorials - Advanced Genetics - The Basics - Video - April 29th, 2014 [April 29th, 2014]
- Dr. Judy Garber on Cancer Genetics - Video - April 29th, 2014 [April 29th, 2014]
- The Sims 3 Perfect Genetics Challenge: Rules - Video - April 30th, 2014 [April 30th, 2014]