2007 July

Genetic Impossibility: Female Mule Gives Birth to Foal

by Dr. Hsien-Hsien Lei
Posted July 31, 2007 in DNA in General

Pop Quiz: How many chromosomes do humans have? Horses? Donkeys?

Answer: Humans have 46 chromosomes, horses have 64, and donkeys have 62.

mule and horseAlthough that’s an interesting bit of DNA trivia to know, it’s even more interesting in the context of breeding between horses and donkeys. If a horse breeds with a donkey, they end up with sterile offspring that have 63 chrosomes – 32 chromsomes from the horse parent and 31 from from the donkey parent. Horse-donkey offspring aka mules are sterile because their odd number of chromosomes makes it technically difficult for chromosomes to pair up properly during the process of meiosis (cell divison of sperm and eggs). This should mean that mules cannot reproduce.

A female mule in Colorado has beaten insurmountable odds and given birth to a foal . According to Laura and Larry Amos, the owners, there have only been about 50 cases of mules giving birth in the past 200 years and only two have been verified using DNA testing. A previous case of twins born of a mule was made possible by hemiclonal transmission; the father’s chromosomes were silenced and shut down completely. Initial DNA tests on the foal and mother mule-in-question showed that Kate, the female mule, was definitely the mother. Results from a count of the foal’s chromosomes are not yet available. No clue on the possible father.

Mules and More has lots more on Kate and her “Miracle John Mule” including pictures.

HT: Alicia

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Eye on DNA Hosting Grand Rounds

by Dr. Hsien-Hsien Lei
Posted July 31, 2007 in DNA in General

Grand Rounds in the beach house next Tuesday!

bali beach house

Tired of hearing about all those celebs and their complimentary deluxe accomodations at the Polaroid Beach House this summer? You too could get your chance to lounge in the (virtual) Grand Rounds Beach House aka blog carnival on August 7th at Eye on DNA.

The only cost of admission is a post related to health, medicine, or healthcare (submission guidelines). Please email all entries to me at hsien AT eyeondna DOT com no later than Monday, August 6.

NB: David Williams at the Health Business Blog is hosting this week’s issue of Grand Rounds 3:45.

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(1 comment)


Eye on DNA Links for 30 July 2007

by Dr. Hsien-Hsien Lei
Posted July 30, 2007 in DNA and Disease, Eye on DNA Headlines

  • dna graffitiGene Genie #12 is up at My Biotech Life.
  • Blaine at The Genetic Genealogist has details on nine of the 10 first participants of the Personal Genome Project.
  • Two genetic variants have been found to increase the risk of multiple sclerosis (MS). They’re the first genes to be found for MS in 20 years; the first found was the gene for HLA-DRB1, which increases the risk of MS four-fold. Both of the new genes encode interleukin receptors that are found on the surface of T cells in the immune system: IL7R-alpha and IL2R-alpha. Each appears to increase the risk of MS by 20 to 30%.
  • People with a variant of the ADRA2B gene, involved in the transport of noradrenaline in the brain, may be better able to recall “emotionally intense,” good or bad memories. Example given:

    …survivors of the 1994 Rwandan genocide were more likely to harbour persistent memories of the conflict if they had the variant version of the gene.

    This finding may help in developing appropriate treatment for psychological conditions such as post-traumatic stress syndrome.

  • Relatives of missing POW’s have been donating their mtDNA to the Department of Defense in case there’s a match to a recovered body. In a test program being run in Pennsylvania, the Pentagon is sending DNA collection kits directly to families. Larry Greer, an official at the DOD:

    We’re still seeking to account for about 8,100 from the Korean War, 1,700 from Vietnam, and about 78,000 from World War II. It’s a huge task, and DNA is a part of it. With a bone sample from a serviceman and a saliva sample from someone in the maternal bloodline, we can identify a DNA match.

    I’m not really clear why they’re asking for relatives on the mother’s side of the missing servicemen’s families–mother, sister, brother, sister’s children–especially when there has already been a case where two servicemen’s mtDNA matched but there were no records to suggest they were related (except possibly via a common ancestor many generations in the past). For more information, visit the DNA section of the Defense Prisoner of War/Missing Personnel Office (DPMO) website. To donate a DNA sample to the DOD database, contact the casualty office for the branch of the military in which the missing serviceman served.

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Newborn Genetic Screening vs Right to Privacy

by Dr. Hsien-Hsien Lei
Posted July 30, 2007 in DNA Testing, DNA and the Law

newborn feetEvery year, about 5,000 infants in the U.S. are diagnosed with a congenital disorder while an additional 1,000 children go undetected because genetic screening isn’t routine or incomplete in their state. The American Academy of Pediatrics, March of Dimes, and American College of Medical Genetics believe that all newborns should be screened for 29 genetic disorders. In the US, the comprehensiveness of newborn genetic screening varies from state to state.

Genetic testing of newborns in Minnesota has been under much debate. Laws stipulate that blood samples cannot be used for research or any other reason not related to disease testing unless the parents sign consent forms. Genetic privacy advocates believe that blood samples should not be taken at all unless parents “opt-in.” But there’s a problem with requiring consent – if people are not automatically included, screening rates are proven to be lower; Minnesota is opt-out and tests more than 99.5% of all newborns, Maryland is opt-in and tests less than 97%.

The Citizens Council on Health Care has been fighting the Minnesota state government to have newborn blood samples destroyed after disease screening (pdf) unless parents give consent for the samples to be used for research. But while this might appease genetic privacy advocates at this point in time, they should think ahead. Once whole genome sequencing is readily available to each individual, destroying blood samples will be too late since DNA analysis can be performed quickly, if not immediately.

Craig Westover, columnist at the St. Paul Pioneer Press, weighs individual privacy rights against public health with respect to newborn genetic screening. He believes that governments who “coerce” people to participate in genetic screening are violating people’s personal privacy.

At stake is more than a theoretical “slippery slope” argument about the dangers of government collection of personal data. It’s a classic case of the seen versus the unseen. The visible results of genetic testing are measured in children’s lives. The unseen, unintended consequences are individual psychological, social and financial risks including social stigma, insurance and employment discrimination. Given individual concerns, detailed counseling, informed consent and confidentiality should be key elements of any genetic testing program.

Despite acknowledging the benefits of newborn genetic screening, Westover concludes that the Minnesota Health Department has not proven that the state should be performing infant genetic screening let alone collecting and storing individual DNA.

My question is: If not the government, then who? Who will be making sure that our children receive the medical care they need and deserve from the time they’re born?

HT: The Minnesota Gene Pool

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Eye on DNA Links for 29 July 2007

by Dr. Hsien-Hsien Lei
Posted July 29, 2007 in DNA and the Law, DNA in General, Eye on DNA Headlines

  • A Harry Potter themed Pediatric Grand Rounds 2.8 is up at Highlight HEALTH today. And I just want to say to Michelle at the underwear drawer that I finished Harry Potter and the Deathly Hallows last weekend so yes, we can talk about it!
  • athlete genesNew Scientist looks at elite athletes and their genes this week. They’ve listed five genes–ACTN3, ACE, PPAR-delta, CKMM, and myostatin–that will help the budding sprinter, mountaineer, marathon runner, cyclist, and weightlifter excel. Click the image on the right to see more details.
  • Martin Heidgen of New York stands accused of trying to fake a DNA test by passing off someone else’s saliva as his own. The DNA sample had both his genetic profile as well as his jail cell mate’s. Heidgen is charged with murder for his involvement in a drunk driving incident that led to the death of two people and an additional five injuries.
  • Physicist Paul Callaghan, recent recipient of the Blake Medal, shares his top picks for key scientific concepts that everyone should understand. Among them, he lists evolution and DNA.

    “The fundamental question for all of us is why are we here. How did humans come to be? So it’s important to have an understanding of the fundamental engine of life, which is DNA: how it expresses itself through proteins, how that leads to disease when proteins don’t fold properly.”

  • Patt Morrison reviews Kristen Gore’s novel, Sammy’s House and goes full on with the genetics analogies.

    “I, for one, am mighty relieved to find out that humor genes did not completely bypass the Al Gore family. Recessive though they may be, they shine forth in the DNA of the Gores’ middle daughter, Kristin, who made her funny bones as an editor of the Harvard Lampoon and a writer on “Saturday Night Live,” where her work included a sly, deadpan “presidential” speech delivered by her father.”

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Genetics Websites from Harvard University and the World Health Organization

by Dr. Hsien-Hsien Lei
Posted July 28, 2007 in DNA Testing, DNA in General, Eye on DNA Headlines

Two comments this week led me to great genetics websites that I think you should visit.

Harvard University’s Personal Genetics Education Project

Coming out of the Wu Lab at Harvard Medical School, Dana Waring is in charge of the Personal Genetics Education Project. This website will be particularly useful when personal genome sequencing becomes widely available. To prepare yourself, learn about the possible benefits and risks as well as those who are currently involved in developing genetic sequencing technology.

Dana had this to say about the Personal Genetics Education Project:

The pgEd is about public education and engagement on personal genetics. I am a member of a basic research lab at Harvard Medical, but my area is the ELSI (ethics, legal, and social issues) side of personal genetics. I think we all believe that the widespread lowcost sequencing is coming soon, and that its really time to get ready!

Our project is aimed at education/outreach to high school and college students, curriculum development, but we are also hoping to engage some of the other stake holders (insurers!) on the topic. I really think that this technology is squared aimed at the generation who are 5-10 years away from being independent health care consumers.

pcr electrophoresis

World Health Organization’s The Genomic Resource Centre

A question from Kathy F about the accuracy of genetic tests got me wondering about general quality assurance issues. The WHO Genomic Resource Centre has a very detailed section on Quality & Safety in Genetic Testing: An Emerging Concern. According to the introduction, the WHO has been considering the implications of genetic testing on public health since 2003.

Here are three elements proposed by the WHO to determine the validity and utility of a genetic test:

  • Analytic validity refers to the ability of the laboratory test to distinguish the trait that it was designed to measure (in the case of genetic testing, the presence of an abnormal gene variant)
  • Clinical validity describes the test’s ability to predict a given clinical outcome.
  • Clinical utility indicates whether a test results in information that can be used to develop a clinical intervention.

Last year, the Government Accountability Office (GAO) reported to the Senate that home DNA tests are misleading, medically unproven, and/or ambiguous. But while a great attention has been focused on direct-to-consumer genetic testing, that doesn’t mean in-laboratory tests are necessarily always accurate and reliable. If you have any doubts or questions about genetic test results, never hesitate to ask for reassurance from your genetic counselor and/or the laboratory that performed the test. Don’t forget that you can always take the test again for confirmation just as you can always ask for a second opinion on any medical diagnosis!

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DNA Video: Gattaca

by Dr. Hsien-Hsien Lei
Posted July 28, 2007 in DNA Podcasts and Videos

A beautifully done Gattaca music video. There were so many DNA motifs in the movie that I didn’t notice when I watched it many years ago.

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DNA Quote of the Day: Dr. George Dimopoulos

by Dr. Hsien-Hsien Lei
Posted July 27, 2007 in DNA Quotes and Excerpts

george dimopoulosDr. George Dimopoulos in the Johns Hopkins Public Health Magazine feature – The Genetic Journey:

Genomics as we know it today did not exist 15 years ago. We did not have the complete DNA or genome sequences of organisms then. While the main challenge of the genomic era was to determine DNA sequences and predict genes, the challenge of the post-genomic era is to assign functions to all these genes; we now have to relate them to specific aspects of the disease and to understand what they are doing. It’s like you have a book with all these words in it, but now you have to read it and understand it.

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(>> Start a discussion!)


Curious Genetics and DNA Google Ads

by Dr. Hsien-Hsien Lei
Posted July 26, 2007 in DNA Fun

  • laughing babyDNA Testing: Dude, He Really is Your Son… Not! Find Out for Sure… – This company’s writer must be a Maury Povitch fan.
  • Genes Made In Germany: novel, patented technology fast, reliable, inexpensive – Does it really matter where they’re made? Well, I guess I might not want genes made in China….
  • Learn Genetics in 24 Hrs: Rapid Learning of General Genetics. – Sign me up!
  • 99.9999% Acurate DNA Test – So “acurate,” they can’t even spell it.
  • Swabtest Paternity Test – It just sounds gross.
  • Haplogroup/SNP testing: Every man fits on a branch of the Y-Chromosome Tree. Find your branch. - Better lay off those donuts before your branch breaks.
  • Dna test: Dna Test on eBay for less. Feed your passion on eBay.co.uk! – What does eBay NOT sell?!
  • Buy Dna test: Shop now for on time Xmas delivery 1000s of great deals on our site – May you never need to take 1000s of DNA tests.
  • Find your roots: Test your DNA to find relatives. Solve the brick wall in your family – Wow. DNA tests can substitute for counseling?
  • Which DNA Test Is For Me?: He’s Cool, Fun and Free Let the Wizard Help You Decide – I’m all for it if the wizard’s name is Harry Potter.

Seen any amusing Google ads lately?

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Eye on DNA Links for 26 July 2007

by Dr. Hsien-Hsien Lei
Posted July 26, 2007 in DNA Around the World, Eye on DNA Headlines

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