Case Studies
At 16:58 on December 21, 2016, with a crisp cry, the "precious children" who carried the dream of the whole family were born. The hearing screening results of newborns after a few days showed that the baby's hearing was completely normal. Looking at this healthy and lovely baby, the family burst into tears. At this point, the family's dominant hereditary deafness was completely blocked.
The newborn's grandmother and father are deaf patients. In order to completely get rid of the deafness of the next generation, they are rushing around for medical treatment, hoping to find out the cause of the disease and give birth to a healthy baby. In June 2015, they came to the People's Liberation Army General Hospital for treatment. Through the next-generation sequencing technology, it was finally determined that the deafness of the family was caused by a mutation in the deafness gene called EYA4 (ie, a single genetic disease). ). Since the EYA4 gene is autosomal dominant, the couple will have a 50% chance of deafness if they naturally give birth.
To help the family completely block the "ghost" of deafness that has plagued them for many years, the PLA General Hospital decided to use the MALBAC® technology of Yikang Gene to help them block the vertical transmission of deafness genes to healthy babies. After full informed consent, they quickly entered the three-generation IVF cycle. A total of 14 embryos were obtained from in vitro fertilization. All of these embryos were detected by MALBAC-PGDTM/PGSTM . The test report showed that 5 embryos in 14 embryos were healthy (no chromosomal abnormalities or EYA4). Disease location). According to the test report and combined with the embryo morphology and other factors, an embryo with the best parameters was selected and implanted into the mother. The embryo was successfully implanted and developed normally, which helped the family to achieve a healthy baby. Wish.
Legend: Professor Wang Qiuju (front row left), Associate Professor Peng Hongmei (front row right), Zhang Fenghuan (second row in the back row), deputy director of Yikang Gene Beijing Branch, and other photos with newborns
As of 2017, Yikang Gene successfully blocked more than 150 single-gene genetic diseases using MALBAC-PGDTM technology, and has helped more than 2,000 families to obtain healthy babies. This technique is the only known method for blocking the family's monogenic genetic diseases and reducing the rate of birth defects, and is suitable for the single-gene hereditary diseases with most of the disease-causing mutations.
For the "Little King" no longer repeats the mistakes of his father "Xiao Wang" and his grandfather "Lady next door". Let us further understand the knowledge of monogenic genetic diseases through the following content. Our goal is to strive to kill single-gene genetic diseases in petri dishes through three generations of IVF technology:
1. What is a single genetic disease?
A monogenic disease refers to a disease or pathological trait controlled by a pair of alleles. Since the gene is located on the chromosome, and the chromosome has the distinction between the autosome and the sex chromosome, the gene also has the difference between the dominant gene and the recessive gene. Therefore, the pathogenic genes located on different chromosomes have different genetic patterns, so the single Gene diseases can be divided into autosomal dominant genetic diseases (such as short-term disease), autosomal recessive genetic diseases (such as albinism), x-linked dominant genetic diseases (such as anti-vitamin D deficiency), x concomitant recessive genetic diseases (such as color blindness, etc.), Y with sexually transmitted diseases (such as auricle long hair, etc.) and other categories.
2. What are the common monogenic genetic diseases?
Common monogenic diseases include thalassemia, albinism, phenylketonuria, red-green blindness, hemophilia, multi-finger, finger, and achondroplasia. The types of monogenic diseases that are common in different regions are not the same. For example, thalassemia is more common in southern China, and it is rare in areas north of the Yangtze River.
3. Will the sick parents be passed on to their children?
A sick parent may not necessarily pass the disease on to the child. Take the genetic mechanism of the autosomal recessive disease thalassemia as an example: if a healthy couple is a carrier of the thalassemia gene, it is possible to have a child with thalassemia. The spouse of a thalassemia patient can give birth to a healthy baby if it is not a carrier of the thalassemia gene.
4. Can you cure a single genetic disease?
Different single genetic diseases are different. Most monogenic diseases cannot be cured, and some diseases can be cured by intervention. For example, thalassemia can be cured by bone marrow stem cell transplantation, but it has the problem of low success rate and high cost.
5. Can environmental factors cause monogenic diseases?
Usually not. Single-gene genetic diseases are controlled by corresponding alleles, and environmental factors usually have a greater impact on polygenic genetic diseases.
6. How to reduce the incidence of single-gene genetic diseases?
Single-gene genetic diseases are numerous and harmful, posing a great threat to the family and the development of society. Such children will cause irreversible harm once they are born. Good marriage and pregnancy tests are effective means to prevent monogenic diseases. In particular, it is important to avoid close relatives' marriage; the offspring of close relatives who have the mental retardation, congenital malformations and other genetic diseases are several times more likely to marry than non-close relatives.
7. What is the clinical way to prevent the genetics of diseased genes?
Thanks to the rapid development of high-throughput sequencing and single-cell sequencing technologies, the third generation of IVF technology has been widely used clinically. Preimplantation genetic diagnosis (PGD) can effectively block monogenic genetic diseases. Passing vertically, changing the fate of the family of genetic diseases.
8. What is the difference between a single gene and a polygenic genetic disease?
Single-gene genetic diseases are controlled by a pair of alleles, in which the incidence of dominant gene-controlled diseases is high; polygenic genetic diseases are controlled by multiple pairs of alleles, with family aggregation, and polygenic diseases are affected by the environment. Also bigger.
9. Can a single genetic disease be discovered early?
Individual monogenic genetic diseases are delayed dominant genetic diseases, and heterozygous individuals with disease-causing genes do not show disease status at an early stage, and only occur at a certain age. For example, Huntington's chorea.
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