A recent study performed in China by Dr. Jin has allowed for minority ethnic groups to be studied for their genetic mutations. The data set, which included 141,3000 participants, obtained from noninvasive prenatal testing represented nearly all of China's provinces and 37 out of 56 minority ethnic groups. While the data from the noninvasive prenatal testing only cover's 10% or less of each persons genome, a custom software was used along with statistics to infer missing DNA. The information obtained allowed researchers to study gene variants. China's population was found to be 92% genetically homogeneous and the majority of the difference was among the north and south provinces.
One of the interesting finds from the study was that the northern and southern provinces of China had a mutation in the FADS2 gene. The FADS2 gene is involved in metabolizing fatty acids and it was found to be more common in northern populations, which indicated a diet richer in animal content. I found the study to be important because studies are rarely done on minority ethnic groups and it will allow for gene variants to be studied which can drastically affect a human being. The study found a high prevalence of hepatitis b and other viruses that can affect pregnancy in the mother's DNA. In the future, the $100 prenatal testing can possibly allow individuals to be tested for gene variants rather than a $1000 genome sequence. The study is now being performed on 3.5 million people to verify that the methods of DNA analysis are correct.