2^nd World Congress on HUMAN GENETICS September 14-15, 2017 Edinburgh, Scotland

Biography:

Abstract:

Biography:

Gustav Milne studied archaeology at Oxford and London University, and worked as an archaeologist for the Museum of London since 1973, excavating sites and publishing many reports and books. He then joined  the UCL Institute of Archaeology where he lectured for a further 25 years.  He helped set up the Museum of London’s Centre for Human Bioarchaeology and the Evolutionary Determinants of Health programme, where archaeologists worked with a consortium including microbiologists, architects and transport planners. The project was  launched at UCL in 2014, and Gustav’s book  Uncivilised Genes: human evolution and the urban paradox’ was published in 2017.

Abstract:

This paper is concerned with the prevention or containment of World Health Organisation’s ten most common fatal diseases or conditions in modern urban populations. This ambitious target could be achieved over time given a greater understanding of the Evolutionary Determinants of Health.

The underlying concept lies in our evolutionary biology. As recent genetic research has shown, we share 98% of our genome with the chimpanzee (Pan troglodytes), and thus have a common ancestor, from which our lineage diverged some 6million years ago. Subsequently the human branch adopted bi-pedal hunter-gatherer-style cultures, living in small tribal societies in the wild, wide open spaces. Through the unbending rigours of natural selection, a particular physiology, dentition and metabolism developed together with their associated digestive and respiratory systems as well as associated psychological traits. This part of our DNA directly supporting those ancestral lifestyles is termed our Palaeolithic Genome: it still remains with us, largely unchanged, although culturally we have evolved at an electric pace. There is therefore a mismatch between our modern urban lives and our basic biology, manifesting itself in the alarming increase the incidence of obesity, diabetes, various coronary issues and cancers. Significantly, such problems seem to be rare in non-urbanised societies, such as the Kitava community in Papua New Guinea as a detailed study by Dr Staffan Lindeberg has shown.

If our urban lifestyles,  architecture and even town plans were reconfigured on evolutionary-concordant lines, our health,  immune systems and wellbeing would be significantly enhanced. Uncivilized genes can materially improve tomorrow’s civilisations.

Biography:

Nguyen Thi Phuong Mai has completed her Master of Science at the age of 31 years from University of Technology and Science in Hanoi, Vietnam. Now, she is a Ph.D student of Institute of Genome Research, Vietnam Academic of Science and Technology in Hanoi, Vietnam. She is a vice-head of Human Genetics Department in National Children’s Hospital. She has publish more than 10 papers in reputed journals.

Abstract:

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex. More than 90% of CAH cases are due to 21-hydroxylase deficiency (21OHD). Mutations in the CYP21A2 gene are affected to 21-hydroxylase activity deficiency. The frequency of mutations in the CYP21A2 gene is due to different populations and there is a correlation between genotype and phenotype. This study was performed in 60 Vietnamese children (120 alleles) suspected with congenital adrenal hyperplasia. Total DNA extraction from whole blood and we use sequencing and MLPA techniques to identified mutations in CYP21A2 gene. We identified 10 cases (16.7%) with heterozygous of mutations; 9 cases (15%) with homozygous of mutations, 19 cases (31.7%) with compound heterozygous of mutations and 22 patients (36.7%) have no mutations. The mutation 30kb deletion is the most common mutation with 17 alleles (14.2%); I172N with 14 alleles (11.7%); I2G with 12 alleles (10%); Promoter conversion with 5 alleles (4.2%); R356W with 4 alleles (3.3%), the others were rare mutations such as V281L; V304M; Q318X.... Sequencing and MLPA techniques were accurate for screening mutations in CYP21A2 gene. The genotype datas will be helpful for the treatment and prenatal testing.

Biography:

Ayça Dilara YILMAZ has completed her PhD at the age of 37 years from Ankara University Biotechnology Department and postdoctoral studies from Ankara University Faculty of Dentistry. She is a post-doctoral researcher, in the Molecular Biology Laboratory of the faculty.
 

Abstract:

Genetic association study between ESR1 and Temporomandibular joint internal derangement: Temporomandibular joint internal derangement (TMJ-ID) is the imbalance of metabolic processes in the extracellular matrix (ECM) of the articular disc, that progressively degrades causing tissue breakdown. Estrogen receptor alpha (ESR1) is found in the intra-articular cartilage and ESR1 polymorphisms are candidates for association with the disorder.

The aim of this study was to investigate the association of XbaI and PvuII polymorphisms with TMJ-ID disorder. 48 unrelated TMJ-ID patients (31.7 ±7.9) (38 female, 10 male)  and 70 healthy controls (28.22 ±5.9) (33 female, 37 male) without TMJ-ID. Also, TMJ-ID patients were grouped as anterior disc displacement with reduction (ADDWR) (n=23) and anterior disc displacement without reduction ADDWOR (n=25). Blood samples were obtained and DNA was extracted by standard proteinase K/phenol-chloroform method. PvuII and XbaI polymorphisms of ESR1 gene were investigated by a polymerase chain reaction (PCR) based restriction fragment length polymorphism (RFLP). In PvuII polymorphism, TMJ-ID patients, ADDWR and ADDWOR cases carrying the Pp/pp genotype had 1.28/1.27, 1.43/1.90 and 1.18/0.81 fold risk for developing the disorder although not significant. p allel was found to be 1.33 fold risk factor in ADDWR cases (CI:0.68-2.60, p=0.4) compared to the healthy group. In XbaI polymorphism, ADDWR cases carrying the Xx and xx genotype had 1.50 and 1.85 fold risk for developing the disorder although not significant. Carrying the x allel  in ADDWR cases had a 1.33 fold risk compared to the control group (CI: 0.68-2.62, p=0.4). Female TMJ-ID patients were compared to healthy female; the difference in genotype/allelic distributions and the odds ratios were not significant for PvuII and XbaI polymorphisms. The finding that PvuII and XbaI polymorphisms has high risk for developing TMJ-ID disorder needs to be further evaluated by increasing the case and controls numbers. A polymorphism in the ESR1 gene may be associated to TMJ-ID.