Detection of aneuploidy with digital polymerase chain reaction.

نویسندگان

  • H Christina Fan
  • Stephen R Quake
چکیده

The widespread use of genetic testing in high-risk pregnancies has created strong interest in rapid and accurate molecular diagnostics for common chromosomal aneuploidies. We show here that digital polymerase chain reaction (dPCR) can be used for accurate measurement of trisomy 21 (Down syndrome), the most common human aneuploidy. dPCR is generally applicable to any aneuploidy, does not depend on allelic distribution or gender, and is able to detect signals in the presence of mosaics or contaminating maternal DNA.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Detection of Aneuploidy with Digital PCR

The widespread use of genetic testing in high risk pregnancies has created strong interest in rapid and accurate molecular diagnostics for common chromosomal aneuploidies. We show here that digital polymerase chain reaction (dPCR) can be used for accurate measurement of trisomy 21 (Down’s Syndrome), the most common human aneuploidy. dPCR is generally applicable to any aneuploidy, does not depen...

متن کامل

Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy.

OBJECTIVE The purpose of this study was to demonstrate that digital polymerase chain reaction (PCR) enables rapid, allele independent molecular detection of fetal aneuploidy. STUDY DESIGN Twenty-four amniocentesis and 16 chorionic villus samples were used for microfluidic digital PCR analysis. Three thousand and sixty PCR reactions were performed for each of the target chromosomes (X, Y, 13, ...

متن کامل

Application of digital polymerase chain reaction technology for noninvasive prenatal test

the chromosomal abnormalities, it was reported that Down syndrome (trisomy 21) occurs in 1 in 800 [3,4], Edward syndrome (trisomy 18) in 1 in 6,000 [5], and Patau syndrome (trisomy 13) in 1 in 10,000 fetal subjects [6]. Moreover, birth defects from Down syndrome comprise about 26% of all congenital birth defects [7,8]. As maternal age increases, fetal chromosomal aneuploidy becomes more prevale...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:
  • Analytical chemistry

دوره 79 19  شماره 

صفحات  -

تاریخ انتشار 2007