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WASHINGTON, Oct. 4 (Xinhua) – Chinese and American scientists have sequenced and analyzed part of the genomes of more than 140,000 pregnant women in China, the largest genetic analysis of the Chinese population to date, revealing associations between genes and issues of birth, including the birth of twins and the age of the woman at the first pregnancy.
The study published Thursday in the journal Cell also allowed researchers to reconstruct the intermarriage of different ethnic groups in China and promised to help identify genes that make people more susceptible to infectious diseases.
BGI-Shenzhen researchers used non-invasive prenatal test (NIPT) data to randomly sequence 6 to 10% of each mother's genome.
"Although the non-invasive prenatal test is a low-pass sequencing," said co-senior author of the study, Xu Xun, of BIG-Shenzhen, a genome sequencing center in China. "It is still possible that the use of these data with a large population helps us to have a much broader view of what the Chinese genetic population looks like."
NIPT, a test that sequences small amounts of DNA lacking a mother's cells to screen for fetal trisomy, is gaining popularity in China. It has been administered to about 6 to 7 million Chinese women.
They discovered that the variation of a gene called NRG1 was related to a greater or lesser incidence of twins. A variant of the gene is more common in mothers of twins and is associated with hyperthyroidism.
According to this study, a variant of another gene, EMB, was associated with older mothers who were mothers for the first time.
In addition, sequencing of DNA in maternal blood has revealed links between viruses and the genes that determine susceptibility to the disease. A variation of a gene was associated with a higher concentration of herpesvirus 6 in a mother's blood.
Herpesvirus 6 is the most common cause of relatively mild skin rash called roseola, but a high "viral load" correlates with more serious symptoms. People with Alzheimer's disease also have higher levels of herpes virus 6 in their brains.
"It's amazing that it's even possible to take these large samples and map the associations to see which genetic variants explain the human traits," said co-author Rasmus Nielsen, professor of integrative biology at the University of California. University of California, Berkeley, who oversaw the computer analysis performed by BGI researchers in Shenzhen, China.
The study covered 141,431 participants, including 36 of China's 55 minority ethnic groups.
"We are excited about the volume: our attendees represent 1 / 10,000 of the Chinese population, so this is a large sample and a good reflection of the entire population," said L & R. Co-principal author Jin Xin with BGI-Shenzhen and southern China. University of Technology.
According to the researchers, this is low-pass genomic sequencing rather than complete, but it is cheaper to get many individuals, but it can still say a lot.
Their proof of concept analyzes allowed scientists to identify trends in the evolution of different ethnic groups in China, locate new genetic loci related to phenotypes such as height and BMI, and identify distributions. viral DNA specific to the Chinese genome.
The researchers also found that many Chinese had common genetic variants among Indians, Southeast Asians and, along the route of the ancient Silk Road, the Europeans.
Today, BIG-Shenzhen is analyzing the genomes of one million Chinese women who have had a non-invasive prenatal test.
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