性发育异常与MAP3K1基因有关

一个由多国科学家组成的国际研究小组近日确定了一种可能与Intersex(中间性别)有关的突变基因。intersex是指机体的外生殖器和内生殖器不相符的性发育异常状态。

一个由多国科学家组成的国际研究小组近日确定了一种可能与Intersex(中间性别)有关的突变基因。intersex是指机体的外生殖器和内生殖器不相符的性发育异常状态。
Chromosome Fusion
研究者NYU大学Langone医学中心人类基因组计划主任 Harry Ostrer博士指出,他们已经发现了一个调控两性发育的分子开关。

Ostrer及其来自英国、澳大利亚和法国的合作者的这一发现刊登在12月2日的 《美国人类遗传学杂志》(American Journal of Human Genetics)上,《美国人类遗传学杂志》是该领域的著名国际期刊。

作者指出,这并非是人类第一次发现性别决定和基因异常有关,20多年前科学家们就发现SRY基因和性发育异常有关。但目前研究的焦点是 MAP3K1基因, MAP3K1基因事实上是SRY基因活动的控制开关,该基因在性别发育中发挥了关键作用。这颠覆了以前人们认为只是X/Y染色体决定男女性别的观点。

Intersex的定义:

Intersex is a group of conditions where there is a discrepancy between the external genitals and the internal genitals (the testes and ovaries).

The older term for this condition, hermaphroditism, came from joining the names of a Greek god and goddess, Hermes and Aphrodite. Hermes was a god of male sexuality (among other things) and Aphrodite a goddess of female sexuality, love, and beauty.

Although the older terms are still included in this article for reference, they have been replaced by most experts (and patients and families) because they are misleading, confusing, and insensitive. Increasingly this group of conditions is being called disorders of sex development (DSDs).

SOURCE:http://www.nlm.nih.gov/medlineplus/ency/article/001669.htm

作者: bensonchina

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