噓 NEWinx: 英國研究 10/31 09:11
http://www.ncbi.nlm.nih.gov/pubmed/21666693
Variation in genome-wide mutation rates within and between human families.
Nat Genet. 2011
推 Pietro: 這個敘述太簡略了 難怪會有人看一下就嗆英國研究 10/31 09:20
的確是太簡單了，而且原文其實也沒提到60這數字，我覺得60是記者為了方便從原文推
算出來的數字吧！
原本的paper其實就只是打算估算一個人身上會出現多少不是由父母親傳來的突變而已。
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322360/pdf/ukmss-36509.pdf
Abstract
J.B.S. Haldane proposed in 1947 that the male germline may be more mutagenic
than the female.Diverse studies have supported Haldane’s contention of a
higher average mutation rate in the male germline in a variety of mammals,
including humans. Here we present the first direct comparative analysis of
male and female germline mutation rates from complete genome sequences of two
parent-offspring trios. Through extensive validation, we identified 49 and 35
germline de novo mutations (DNMs) in two trio offspring, as well as 1,586
non-germline DNMs arising either somatically or in the cell-lines from which
DNA was derived. Most strikingly, in one family we observed that 92% of
germline DNMs were from the paternal germline, while, in complete contrast,
in the other family 64% of DNMs were from the maternal germline. These
observations reveal considerable variation in mutation rates within and
between families.