三泰虎

通过基因编辑,携带致癌基因的妇女可避免将其遗传给下一代

Woman with oncogene gets it edited out of her babies to end cancer cycle

采用现代技术,携带致癌基因的妇女可避免将癌症基因遗传给下一代

MUMBAI: In the eight years since she found out she carries the cancer-causing BRCA1 mutation, Bengaluru’s SwayamPrabha has obsessed about not passing on the oncogene to her children. On July 20, with the help of modern medical techniques, she gave birth in a south Mumbai hospital to twins who don’t carry the mutation—the first such case in the country.

孟买:在发现自己携带致癌基因BRCA1突变后的8年里,孟加拉人斯瓦伊姆普拉巴一直一门心思想着不把致癌基因传给自己的孩子。7月20日,在现代医疗技术的帮助下,她在孟买南部的一家医院生下了一对双胞胎,这对双胞胎没有携带这种突变——这是印度首例案例。

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图片来源:印度时报

“My mother has cancer and her sisters passed away due to it. I have the BRCA1 mutation, increasing my risk of cancer, but this cancer cycle will end with me. My children have been spared,” she told TOI from her room in Jaslok Hospital.

“我母亲得了癌症,她的姐妹们也因此去世了。”我有BRCA1基因突变,增加了我患癌症的风险,但是这个癌症魔咒在我这儿将得以终结。我的孩子们都免受威胁了,”她在贾斯洛克医院的房间里告诉印度时报。

Five years ago, Hollywood actor Angelina Jolie had undergone operations to remove her breasts and ovaries after she was diagnosed with both the BRCA1 (BReastCAncergene) and BRCA2 mutations that heighten the risk of several forms of cancer, particularly breasts and ovaries. Among men, it increases the risk of breast, pancreatic and prostrate cancer.

五年前,好莱坞影星安吉丽娜·朱莉在被诊断出BRCA1(乳腺癌基因)和BRCA2基因突变后,进行了摘除乳房和卵巢的手术。这种基因突变会增加罹患多种癌症的风险,尤其是乳房和卵巢。在男性个体中,它会增加患乳腺癌、胰腺癌和前列腺癌的风险。

In Swayam’s case, IVF specialist DrFiruza Parikh and her team of geneticists used pre-implantation genetic testing and transferred only those embryos without the BRCA1 mutation into the 37-year-old’s womb. “With IVF, we managed six embryos for Swayam,” said Parikh who runs the FertilTree-Jaslok International Fertility Centre. While two embryos were not viable, two carried the mutation and the remaining two didn’t.

就斯瓦伊姆而言,体外受精专家弗拉泽帕瑞卡医生和她的遗传学家团队使用了植入前基因测试,只将那些没有BRCA1突变的胚胎移植到这名37岁妇女的子宫中。“通过体外受精,我们为斯瓦伊姆培育了6个胚胎,”负责贾斯洛克国际生育中心的帕瑞卡说,其中两个胚胎无法存活,其中两个携带了突变,而剩下的两个没有问题。

Parikh, who has used PGT to help couples have kids without genetic conditions such as thssemia, said Swayam’s case is the first in India where the threat posed by oncogenes was removed. “Worldwide, PGT has been used to keep out BRAC1 & 2 genes in roughly 150 cases,” she added.

帕瑞卡通过植入前基因测试技术帮助多对夫妻生下没有遗传病(如地中海贫血病)的孩子。她说,斯瓦伊姆的病例是印度第一个消除了致癌基因威胁的病例。她补充说:“在全世界范围内,有大约150个采用植入前基因测试排除BRAC1 & 2基因的病例。”

Roughly, eight million children are born across the world every year with birth defects due to genetic reasons. “Genetic abnormalities can result from a small mutation in just one gene. But PGT can play a role in preventing birth defects,” said Dr Parikh.

全球每年大约有800万儿童因为遗传原因而导致先天缺陷。帕瑞卡医生称,“基因异常可能由一个基因的小突变引起。但植入前基因测试可以在预防先天缺陷方面发挥作用。”

SwayamPrabha married Bengaluru-based IT professional DebashisPanigrahi in 2010, just a few months before her mother was diagnosed with ovarian cancer. “As my mother’s sisters, cousins and an uncle had cancer, doctors at Tata Memorial Centre in Parel asked me and my siblings to undergo a genetic test for oncogenes,” she said. Only she had the BRCA1 gene and was advised to follow Angelina Jolie-like operations to remove her breasts and ovaries.

2010年,斯瓦伊姆·普拉巴嫁给了孟加拉的IT专业人士德巴希尼亚。就在几个月后,她的母亲被诊断出患有卵巢癌。她说:“由于我母亲的姐妹、堂兄弟姐妹和一个叔叔都得了癌症,帕雷尔的塔塔纪念中心的医生要求我和我的兄弟姐妹进行致癌基因的基因测试。”只有她有BRCA1基因,并被建议采用安吉丽娜·朱莉接受过的那种手术,摘除她的乳房和卵巢。

“I wanted to ensure that my husband’s family has a healthy baby, so I waited before taking such a drastic step,” she said. When she met Parikh for the first time in December 2016, she was advised not to undergo any removal surgery.

她说:“我想让我丈夫的家人拥有一个健康的孩子,所以我在采取激进的措施前一直等待着。”当她在2016年12月第一次见到帕瑞卡时,她被建议不要做任何移除手术。

“Angelina Jolie had both BRCA 1 and BRCA2 genes that increased her chances of cancer. But Swayam only has one mutation and there are chances that she won’t get cancer despite the mutation,” said Parikh.

安吉丽娜·朱莉拥有BRCA 1和BRCA2基因,这增加了她患癌症的几率。但是斯瓦伊姆只有一个突变,她仍有可能不会罹患癌症,”帕瑞卡说。

When contacted, Ahmedabad-based Dr Manish Banker, former presi nt of the Indian Society for Assisted Reproduction (ISAR), said PGD/T are done by only a handful of IVF centres in urban areas. “Five years back, PGD cost double of what it does now at Rs 15,000-20,000 per embryo. It increases the chances of a pregnancy in IVF cycles, and is advisable if the woman is older,” said Dr Baker, adding that he uses the technique roughly 80 times a year.

在联系到印度辅助生殖协会(ISAR)前主席曼尼什·班克博士时,他说,植入前基因测试仅能在少数几个城市的试管婴儿中心进行。“五年前,植入前基因测试的成本是现在的两倍,即每个胚胎15000 - 20000卢比。这增加了试管受精星期期中怀孕的几率,如果妇女年龄较大,这是可取的。”

Mumbai-based IVF specialist DrAmeetPatki, former ISAR secretary-general, said PGD/T is helpful for parents whose child could have an incapacitating disease such as Down’s Syndrome or Duchenne’s Muscular Dystrophy. “Using PGD for BRCA mutations is a grey zone,” he said.

位于孟买的试管婴儿专家阿密特帕特基医生,前ISAR秘书长,说植入前基因测试对于那些可能生育残疾子女的父母是有帮助的,比如唐氏综合症或者杜氏肌营养不良。“使用植入前基因测试治疗BRCA突变是一个灰色地带,”他说。

印度时报网友评论:

原创翻译:三泰虎 http://www.santaihu.com/45676.html 译者:Joyceliu

外文:https://timesofindia.indiatimes.com/city/mumbai/woman-with-oncogene-gets-it-edited-out-of-her-babies-to-end-cancer-cycle/articleshow/65181957.cms

Ved Singh

Gene editing is very different from Pre Implantation Genetic Diagnosis(PGD). PGD for single gene disorders is a well established technology worldwide. This was PGD. Gene editing using CHRSPER technology is possible but highly controversial and never been done in humans.

基因编辑与植入前遗传学诊断有很大的不同。植入前基因测试治疗单基因疾病是一项世界范围内公认的技术。采用CHRSPER技术进行基因编辑是可能的,但争议很大,而且从未在人类身上进行过。

 

ONE LINER Challenge-2 hours ago-Follow

FRANKLY IN AN OVER POPULATED COUNTRY SHE COULD HAVE ADOPTED AND STOP SPREADING THE GENE.WHY BRING IN 2 MORE AN·D BE PROUD OF IT.

坦白地说,在一个人口过多的国家,她本可以收养儿童并停止这种基因的传播。为什么要多生育两个孩子,并为此感到自豪呢?

 

DR.MAHADEVAN IYER-4 hours ago-Follow

agreed
this is not crisp R for editing the gene.
this is just finding out whether an abnormal gene is present and deleting those that have the abnormal gene
BUT MIND YOU, EVEN THIS IS A FANTASTIC FEAT

同意

这并不是编辑基因。

这只是检查是否携带异常基因,并删除那些有异常基因的基因

但请注意,即使是这也是一项了不起的壮举

 

MrBoobs-Right Here-5 hours ago-Follow

India should go through gene adjustment and eidtCOngress, Pappu, Sonia, Mooslees, Chirstian missionaries, Commies, mamta and the rest of the anti India elements out of its sy em

印度应该通过基因调整,把国大党、拉胡尔、索尼娅、、基督传教士、共党分子、玛玛塔和其他反印度分子消掉

 

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