Dr. Mark A. Jobling at the University of Leicester published a study in 2005 that examined DYS464, a Y-DNA marker commonly sequenced for genetic genealogical purposes. As it turns out, sequencing DYS464 can inadvertently detect an AZFc deletion. Deletion of AZFc (azoospermia factor c) causes spermatogenic failure and subsequently, male infertility. This marker is tested by at least 6 firms.
Dr. Jobling pointed out that a previous study had concluded that an AZFc deletion could be found in 1 in every 4000 males. In Dr. Jobling’s study there were 3 cases in 3255 males tested, which he states is “not significantly different from 1 in 4000.” A story in the New Scientist stated that “a study by Jobling’s team suggests that 1 in 1000 men has the deletion,” but I think that is an overstatement by the media. I haven’t seen anywhere that Dr. Jobling made such a statement – he was merely listing some of his data. Elsewhere, Ann Turner has suggested that at FTDNA, the number is around 1 in 8,000. Although the exact frequency has not yet been determined, it appears that it is rather low.
The number of markers tested will undoubtedly continue to rise before we cross The Barrier, the move from individual STRs to full-genome sequencing. As a result, the probability that a tested marker could reveal more than just genealogical information will become more and more likely. It is, and always will be, important that individuals be aware of the possible consequences of DNA testing BEFORE they undergo DNA testing. Naturally, this awareness is the responsibility of both the DNA testing firm and the individual.
HT: Hsien, and thank you to the Journal of Medical Genetics for making this paper open access.
It bears repeating that this could cause problems in two ways:
1) Men who don’t have biological children may suddenly find they’re not able to.
2) Men who already have children may find that they’re not the biological father.
I haven’t seen any testing company explain let alone mention this possibility. Seems like it might be time to replace this marker with another?
this year in our lab there were 2 male inferetility cases with Y microdeletion (AZFc) detected – the first cases when this test is performed (c.a. 3 years). EMQN has very good guidelines for this simple multiplex PCR test with primers listed – you can virtually perform it at home if you have PCR machine – its very easy test:)
http://www.emqn.org/emqn/BestPractice/mainColumnParagraphs/011/document/AZF_Guidelines_2004.pdf
To my knowledge Y microdeletions are the cause around 7,3% of all male infertility, and even 66% for azospermia cases).
Hsien – The problem is that DYS464 is such a valuable marker. Unfortunately, I think that the secrets revealed by DNA are only going to get much, much worse. All sequencing companies are going to have to make iron-tight releases to survive. I wonder what the releases for paternity testing firms are like?
RamÅ«nas – Thank you for stopping by! I think it would be very interesting to see a study of the actual frequency, but the sample size would have to be pretty big.
Do you think there will be a day when everyone has a PCR machine at home? I can picture it: “Mom, what kind of bug is this?” “I don’t know, mash it up and stick it in the sequencer!”
Yeah, I don’t know if the problem is as bad for paternity tests because they typically only examine around 16 markers. But when you have companies that are offering 67 Y-DNA markers a pop, then there’s definitely more chances of there being some unexpected results!
hi. well, who knows – before 30 years idea about personal computer was ridiculous. And now there is personal DNA analyzer on the market already: http://cancergenetics.wordpress.com/2007/07/20/personalized-dna-analyser-precautions/
but maybe we do not need to amplify anything in a near future? – http://helicosbio.com/62BF65F522E048CEB03FAF69C4AB7B07.asp?ps_key=167F2249805D46CBBCFA9411F774CD4F&page=1&ie_key=1E21A8B7AC5043279851D73C51DC420B
Great! More and more research is needed to find better cure and causes of many diseases.
Hello everyone – I hope this is a good place to say this given I am at my wits end. My name is Sarah and my husband and I have been trying (unsuccessfully) to conceive for almost four years now and have been through much together through our lives. I have experienced two miscarriages and several different doctors in an attempt to conceive our first child.
My husband is 31 and I am 29 years old and following my first signs of pregnancy which I identified really early at around 3 weeks, our baby unfortunately did not make it past the first month. In our second pregnancy, the hospital for some unknown reason did not take a blood test to verify the pregnancy. I was visited at home by the local nurse and on each occasion in light of our previous miscarriage I asked again for a blood test to confirm all was well.
Despite them not doing a blood test I insisted upon an ultrasound as I just had to know everything was ok – the ultrasound confirmed something I think we both already felt that the baby again didn’t make it. As you can imagine we were both devastated (again). The doctors told us I had a problem with my uterus, and the uterus walls were abnormally thick, which it was assumed was causing the problem – we were told to persevere…
So we continued to try and recently I fell pregnant for the third time. I experienced bleeding for almost 1 month straight and the doctors could not really give me any answers why I was bleeding and simply conducted routine blood work to ensure I wasn’t loosing too much blood and a brief check to look for any abnormalities. A little while later, you guessed it the baby passed. This time I was given more information from the doctors whom suggested there is the potential that my body does not produce sufficient amounts of the progesterone hormone to stay pregnant in addition to the thick wall of my uterus.
As you can imagine both my husband and I are exhausted and so want to have a baby but are determined – there are some procedures I can undergo apparently and also some drugs which can help with the hormone levels but I am really at my wits end. I regularly scour the internet looking for answers to my questions and recently came across this site (http://www.conceptionadvice.co.cc) which seems to show some good success stories, I will try anything at the moment, has anyone here heard about this or tried the course? I am running out of options (although we continue to try) and would appreciate any help anyone can provide to us.
Approximately 2 million American women undergo some type of fertility treatment every year. Contrary to the intensive media coverage of fertility issues, infertility has not reached epidemic proportions. According to the National Center for Health Statistics, the number of infertile married couples was actually lower in 1995 2.1 million than in 1982 2.4 million.;Infertility rates have not increased in the past three decades, but treatment protocols were forever changed the moment Louise Brown entered the world in 1978.”
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