Congenital Birth Defects Essay -- Genetic Causes, Chromosomal Abnormal

1.1 inbred Birth Defects Birth defects, congenital abnormalities argon terms used to let on emergenceal defects that be present at birth. There are a lot of familial and environmental inter acts in the complex transition from a fertilised ovum to a fully formed human being. The stage of development that the interactions are affected influences the type of birth defects. Birth defect causes underside be divided into two types, communicable and environmental causes. There are also birth defects which are caused due to multifactorial inheritance (George, 2007). familial causes of birth defectsIt has been estimated that 25% of all birth defects are caused due to elementtic factors and out of these 85% causes are known (Brent, 2004). Birth defects can be caused due to chromosomal aberrations, mutations in single constituents and interactions of both environmental and genetic factors. Chromosomal aberrations are seen frequently as the complex mechanisms such as meiosis or mitosis ar e prone to error. Another frequent precipitating(prenominal) factor of multiple birth defects is chromosomal aneuploidy (loss or gain of exclusively chromosome). Multiple congenital anomaly syndromes are caused due to single gene defects (Prescott, 2001).Chromosomal abnormalities They may be numerical or structural and are important causes of approximately 5-6% of all birth defects (Young, 2005). These abnormalities may arise fresh or maybe inherited from a parent with same chromosomal aberration. Numerical abnormalities are caused due to any deviation from the human diploid number of 46 chromosomes which is called chromosomal aneuploidy. This leads to multiple birth defects as it disturbs the action of multiple genes. Usually, numerical chromosomal abnormalities are resu... ...Synthetic lethality does indicate that when two genes curb the same role and mutation occurs in them both making them non- operateal just now then it results in lethality. Moreover when both the genes h ave the same function in the pathway, each mutation in the genes diminishes the function of the pathway.Even though genome sequencing of mouse and humans are completed the function of a major part of the genomes are still unknown. An effective way to discover the gene function is by determining the consequence of mutations in organisms. This study focuses on congenital birth defects by studying the mutations in mouse genome causation developmental abnormalities which serve as models for human congenital birth defects. In this study an attempt is made to identify the genes that cause developmental defects and lethality thus aids the study of congenital birth defects.