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In this work, we present new data about the spatial distribution of the ACH mutation (c.1138G>A) throughout an entire testis of an 80-year-old unaffected man.
To elucidate what mechanisms might be driving the high frequency of this mutation in the male germline, we examined the spatial distribution of the c.1138G>A substitution in a testis from an 80-year-old unaffected man.
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It found that while women's economic circumstances were largely unaffected, men with late-divorcing parents tended to be socially and economically disadvantaged compared with peers with parents who stayed together.
Genotyping of the two variants in an additional 393 men with sporadic prostate cancer showed a frequency of 3.1% (12 of 393) in contrast to 0.6% (2 of 327) in 327 unaffected men (Fisher's exact test, P = 0.018), with an odds ratio (OR) of 5.1 [95% confidence interval (95% CI), 1.1-23.0].
More importantly, can we get unaffected men to care about the issue?
Epididymal cysts were more common in unaffected men (61 vs 40%, P=0.06).
In addition, the high prevalence of TM among unaffected men makes a treatment effect unlikely.
Testicular microlithiases were bilateral in six out of seven (87%) unaffected men.
In family 351, there were three unaffected men, who carried the variant.
Specifically, we were able to assign older, unaffected men (more likely not to be gene carriers) to a different liability class than younger, unaffected men who may be gene carriers but who have not yet presented with the disease.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com