Research summary

With the development and improvement of human lifestyle, the spectrum of human disease has undergone the structural changes. The incidence of birth defects and inherited diseases increased year by year. At present, the incidence of birth defects in China is 4% to 6%, and about 800 thousand to 1 million defective children were born each year. The congenital heart disease, cleft lip and palate, hydrocephalus, neural tube defects and mental defects have become the major birth defects. Genetic factors also play a key role in some common diseases such as cardiovascular disease, diabetes and tumors. About 1/5 to 1/4 of Chinese population has a variety of genetic diseases. There is an increasing demand for genetic counseling, genetic diagnosis, and prenatal diagnosis and other clinical genetic services.

Research fields

1. Establish the genetic resource bank of genetic diseases and birth defects.

2. Explore the genetic factors that cause genetic diseases and birth defects.

3. Reveal the genetic mechanism of genetic diseases and birth defects.

4. Construct animal models of genetic disease or birth defects.

5. Establish the genetic database of genetic disease or birth defects.

6. Training the genetic counseling physicians and carry out genetic counseling.

Research achievements

1. Establishment of genetic disease sample bank

At present, our laboratory has established a sample bank of common genetic diseases (sporadic cases and family), such as children asthma, schizophrenia, diabetes, cataract, psoriasis, Graves disease, as well as normal control samples, which including over 5000 samples.

2. Establishment of genetic medicine center and carry out genetic counseling

In 1964, with the efforts of Professor Li Pu, Professor Zhang Guiyin and Professor Liu Quanzhang, the Laboratory of Medical Genetics of Harbin Medical University carried out the genetic counseling and human chromosome research firstly in China. In 1965, a case with 46, XX/46, XY was reported first in the world. In 1991, the center of Genetic Medicine of Heilongjiang province has been established in the Laboratory of Medical Genetics of Harbin Medical University to carry out the consultation and diagnosis of genetic diseases (including chromosome examination).

3. Association studies of genetic diseases and birth defects

With the matched case and control samples, we carried out a number of association studies, such as congenital cataract, type 2 diabetes, psoriasis, childhood asthma and so on. The genetic resource is important samples for disease research and the results showed that there were different genetic susceptibilities for these diseases in different populations.

Publications (*corresponding author)

1. Wang C, Zhao C, Zhang X, Xu L, Jia X, Sun H, Yu J, Zhang G, He N, Li Q, Qiao Y, Fu S*. (2016)The polymorphisms of MSH6 gene are associated with AIDS progression in a northern Chinese population.Infect Genet Evol. 42:9-13. PMID: 27090025

2.    Jia X, Zhang F, Bai J, Gao L, Zhang X, Sun H, Sun D, Guan R, Sun W, Xu L, Yue Z, Yu Y, Fu S*. (2013)Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.BMC Med Genet. 14:107. PMID:  24103489

3. Zhang X, Qiao H, Zhao Y, Wang X, Sun H, Liu A, Xu L, Sun D, Jin Y, Yu Y, Meng X, Bai J, Chen F, Fu S*. (2012) Association of single nucleotide polymorphisms in TCF2 with type 2 diabetes susceptibility in a Han Chinese population. PLoS One. 7(12): e52938. PMID: 3534126

4. Zhou J, Sun D, Xu L, Sun L, Fu S, Li Y*. (2011) ADAM33 as a psoriasis susceptibility gene in the Han population of northeastern China. Dermatology. 223(4):356-62. PMID: 22269827

5. Qiao H, Zhang X, Zhao X, Zhao Y, Xu L, Sun H, Fu S*. (2012) Genetic variants of TCF7L2 are associated with type 2 diabetes in a northeastern Chinese population. Gene. 495(2):115-9. PMID: 22245614

6. Han D, Shen C, Meng X, Bai J, Chen F, Yu Y, Jin Y, Fu S*. (2012) Methionine synthase reductase A66G polymorphism contributes to tumor susceptibility: evidence from 35 case-control studies. Mol Biol Rep. 39(2):805-16. PMID: 21547363

7. Sun H, Bai J, Chen F, Jin Y, Yu Y, Fu S*. (2011) Lack of an association between AURKA T91A polymorphisms and breast cancer: a meta-analysis involving 32,141 subjects. Breast Cancer Res Treat. 125(1):175-9. PMID: 20464476

8. Sun H, Bai J, Chen F, Jin Y, Yu Y, Jin L, Fu S*. (2011) RAD51 G135C polymorphism is associated with breast cancer susceptibility: a meta-analysis involving 22,399 subjects. Breast Cancer Res Treat. 125(1):157-61. PMID: 20454923

9. Shen C, Sun H, Sun D, Xu L, Zhang X, Liu A, Jia X, Bai J, Chen F, Yu Y, Jin Y, Yu J, Fu S*. (2011) Polymorphisms of tumor necrosis factor-alpha and breast cancer risk: a meta-analysis. Breast Cancer Res Treat. 126(3):763-70. PMID: 20882404

10. Sun H, Qiao Y, Zhang X, Xu L, Jia X, Sun D, Shen C, Liu A, Zhao Y, Jin Y, Yu Y, Bai J, Fu S*. (2010) XRCC3 Thr241Met polymorphism with lung caner and bladder cancer: A meta-analysis. Cancer Sci. 101(8):1777-82. PMID: 20500515

11. Xu L, Yuan W, Sun H, Zhang X, Jia X, Shen C, Zhao Y, Sun D, Yu Y, Jin Y, Fu S*. (2011) The polymorphisms of the TNF-�� gene in multiple sclerosis?-a meta-analysis. Mol Biol Rep. 38(6):4137-44. PMID: 21136171

12. Wu J, Ren X, Zhang X, Li C, Li Y, Ma H, Zhou Y, Jin Y, Chen F, Bai J, Fu S*. (2010) The vascular endothelial growth factor +405 G/C polymorphism in psoriasis. J Dermatol Sci. 57(1):62-3. PMID: 19931423

13. Xu L, Qiao Y, Zhang X, Sun H, Wang J, Sun D, Jia X, Shen C, Zhao Y, Jin Y, Yu Y, Ling H, Wang K, Fu S*. (2011) A haplotype in the CCR5 gene promoter was associated with the susceptibility to HIV-1 infection in a northern Chinese population. Mol Biol Rep. 38(1):327-32. PMID: 20364409

14. Xu Z, Sun H, Yu Y, Jin Y, Meng X, Sun D, Bai J, Chen F, Fu S*. (2010) Diversity of five novel Y-STR loci and their application in studies of north Chinese populations. J Genet. 89(1):29-36. PMID: 20505244

15. Jiang J, Zhang X, Sun D, Jin Y, Bai J, Chen F, Fu S*. (2010) Study on VNTR polymorphism of gene IL-1RA in 19 Chinese populations. Int J Immunogenet. 37(2):73-7. PMID: 20002810

16. Xu L, Qiao Y, Zhang X, Sun H, Wang J, Sun D, Jin Y, Yu Y, Chen F, Bai J, Ling H, Wang K, Fu S*. (2010) CCR2-64I allele is associated with the progression of AIDS in a Han Chinese population. Mol Biol Rep. 37(1):311-6. PMID: 19669591

17. Xu L, Sun H, Zhang X, Wang J, Sun D, Chen F, Bai J, Fu S*. (2010) The -22018A allele matches the lactase persistence phenotype in northern Chinese populations. Scand J Gastroenterol. 45(2):168-74. PMID: 19947896

18. Xue Y, Zhang X, Huang N, Daly A, Gillson CJ, Macarthur DG, Yngvadottir B, Nica AC, Woodwark C, Chen Y, Conrad DF, Ayub Q, Mehdi SQ, Li P, Tyler-Smith C*. (2009) Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation. Genetics. 183(3):1065-77. PMID: 19737746

19. Zheng L, Sun H, Wang J, Li S, Bai J, Jin Y, Yu Y, Chen F, Jin L, Fu S*. (2009) Y Chromosomal STR Polymorphism in Northern Chinese Populations. Biological Research. 42(4):497-504. PMID: 20140305

20. Wang C, Chen F, Zhang X, Jin Y, Bai J, Fu S*. (2009) Polymorphic study of XRCC1 G28152A and XRCC1 C26304T in 10 Chinese populations. Biochem Genet. 47(1-2):27-32. PMID: 19067157

21. Wu J, Chen F, Zhang X, Li Y, Ma H, Zhou Y, Jin Y, Wang H, Bai J, Zhang G, Fu S*. (2009) Association of MIF promoter polymorphisms with psoriasis in a Han population in northeastern China. J Dermatol Sci. 53(3):212-5. PMID: 19157791

22. Wu J, Fu S, Ren X, Jin Y, Huang X, Zhang X, Bai J, Fu S*. (2009) Association of MIF promoter polymorphisms with childhood asthma in a northeastern Chinese population. Tissue Antigens. 73(4):302-6. PMID: 1931773822.

23. Cui X, Gao L, Jin Y, Zhang Y, Bai J, Feng G, Gao W, Liu P, He L, Fu S*. (2007) The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family. Molecular vision. 24(13):2023-9. PMID: 17982427

24. Gao L, Qin W, Cui H, Feng G, Liu P, Gao W, Ma L, Li P, He L, Fu S*. (2005) A novel locus of coralliform cataract mapped to chromosome 2p24-pter. J Hum Genet. 50(6):305-10. PMID:15933805