What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020)
38:00-39:34
Is there a way to find out if a family member that has already passed had the gene? We've had some family members that have had similar health issues but were never diagnosed to have Loeys-Dietz syndrome. We always wonder if they really did.
MacCarrick:
亡くなった家族の遺伝子変異を確認する方法はありますか？家系にLDSに似た特徴のある人が数名いたのですが、LDSの診断は受けていませんでした。本当にLDSだったのか知りたいです。
So it would be worth trying to go back in the medical records to learn as much as you can about the medical history for those family members. It, there is a possibility that a DNA test could be done to try to diagnose someone that's deceased. There is the possibility of obtaining DNA from stored samples or stored tissue from someone who has passed away, for example, if an autopsy was performed. It's a bit complicated. It can take quite a while to get those samples released from the facility that did the autopsy but if there is a compelling reason to try to know that answer the, the the right answer to that question is yes. There are possibilities.
Dietz:
できる限りの情報を得るために医療記録を調べてみるという方法があると思います。また、亡くなった方のDNA検査ができる可能性はあります。例えば、検視をおこなっている場合など、保存されている検体や組織などからDNAを採取できる場合ですが、複雑な手続きが必要で、検視をおこなった施設から検体を持ち出すことは大変かもしれません。しかし、なんとしてもDNAの情報が必要ということになれば、不可能ではないと思います。
And I think it's important to say too like if that person who is deceased is a connector between, like, you who has the variant and a cousin who has the variant, you know, they can be an assumed person to have it, so if there's people on other side that have it and they're the connector in-between you really don't need to do that gene test, you know, it tracked through that person.
MacCarrick:
私から付け加えますが、亡くなったご家族がコネクターかどうかが重要になると思います。コネクターというのは、例えば、自分と従兄弟に変異がある場合に、二人と同じ家系にいて変異を遺伝させた人です。亡くなった方以外に家系内に変異のある方がいらっしゃれば、その方がコネクターということになり、その方から遺伝経路を追跡できますので、亡くなった方の遺伝子検査は不要になります。
The Marfan Foundation did not participate in the translation of these materials and does not in any way endorse them. If you are interested in this topic, please refer to our website, Marfan.org, for materials approved by our Professional Advisory Board.
The Marfan Foundation は、当翻訳には関与しておらず、翻訳内容に関してはいかなる承認も行っておりません。このトピックに興味をお持ちの方は、Marfan.org にアクセスし、当協会の専門家から成る諮問委員会が承認した内容をご参照ください。
