Inherited susceptibility

Inherited susceptibility to common, complex diseases may be caused by rare, pathogenic variants (“monogenic”) or by the cumulative effect of numerous common variants (“polygenic”). Comprehensive genome interpretation should enable assessment for both monogenic and polygenic components of inherited risk.

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Next generation sequencing (NGS) has been a handy tool in clinical practice, mainly due to its efficiency and cost-effectiveness. It has been widely used in genetic diagnosis of several inherited diseases, and, in clinical oncology, it may enhance the discovery of new susceptibility genes and enable individualized care of cancer patients.

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Inheritance of the F variant of alpha-1-antitrypsin is associated with normal circulating protein levels, but it is believed to be dysfunctional in its ability to inhibit neutrophil elastase and therefore has been implicated as a susceptibility factor for the development of emphysema.

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Birt-Hogg-Dubé syndrome (BHD) is a dominantly inherited familial cancer syndrome characterised by the development of benign skin fibrofolliculomas, multiple lung and kidney cysts, spontaneous pneumothorax and susceptibility to renal cell carcinoma.

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Breast Cancer (BC) is associated with inherited gene mutations. High throughput genotyping of BC samples has led to the identification and characterization of biomarkers for the diagnosis of BC. The most common genetic variants studied are SNPs (Single Nucleotide Polymorphisms) that determine susceptibility to an array of diseases thus serving as a potential tool for identifying the underlying causes of breast carcinogenesis.

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Hereditary breast and ovarian cancer (HBOC) is an autosomal dominant inherited cancer susceptibility disorder. Both BRCA1 and BRCA2 genes are considered as high penetrance genes of this syndrome. The identification of BRCA1/2 genetic alterations before cancer development, grant patients the chance to benefit from various medical cancer prevention approaches.

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BRCA1 and BRCA2 mutations explain approximately one-fifth of the inherited susceptibility in high-risk Finnish hereditary breast and ovarian cancer (HBOC) families. EMSY is located in the breast cancerassociated chromosomal region 11q13.

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Approximately 10–15% of ovarian carcinomas (OC) are attributed to inherited susceptibility, the majority of which are due to mutations in BRCA1 or BRCA2 (BRCA1/2). These patients display superior clinical outcome, including enhanced sensitivity to platinum-based chemotherapy.

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Accumulating evidence indicates inherited risk in the aetiology of lung cancer, although smoking exposure is the major attributing factor. Family history is a simple substitute for inherited susceptibility.

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Rust caused by Puccinia arachidis Speg. is the most important disease on Groundnut worldwide. Limited information about nature of inheritance of rust resistance is available to peanut breeders. The investigation was undertaken to determine the mode of genetic inheritance of rust resistance in two F2 populations of groundnut. The crosses were generated by crossing resistant genotypes viz., GPBD5 and ICGV86699 with susceptible genotype TG76.

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Corn ranks one of the four principal crops of the world. It has greater adaptability and is grown throughout the world, over a range of climatic conditions. Maize breeding programmes generally focus on yield improvement. However, several diseases are responsible for major economic losses in maize. Sorghum downy mildew is one of the most serious diseases in maize producing areas throughout the world. Although effective chemical measures are available, breeding resistant cultivars is more cost effective and environmentally safe alternative for controlling sorghum downy mildew.

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Northern Corn Leaf Blight (NCLB or NLB) caused by Exserohilum turcicum is a common disease of maize in many parts of the world including India. Resistance to NCLB is complexly inherited and controlled by several quantitative trait loci (QTL) distributed across the genome. Phenotype as well as linked DNA marker based selection for resistance to NCLB is expected to be effective. Hence an investigation was carried out involving a total of 569 F2:3 families derived from two crosses viz., PH234 X PHBP3 and PH234 X PH84K, where PH234 is resistant parent and PHBP3 and PH84K are susceptible parents.

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Mungbean Yellow Mosaic Virus (MYMV) disease is one of the most devastating diseases of greengram causing 85 – 100 per cent yield loss and transmitted by the white fly, Bemisia tabaci. This has become increasingly serious because of the lack of resistance in the existing cultivars. Ten greengram genotypes were screened for MYMV disease resistance at hotspot of National Pulses Research Centre, Vamban during kharif season. Among them, SML 1815, MH 421 showed resistant reaction whereas, VBN (Gg) 3, VBN (Gg) 2, LGG 460, RMG 10-28 and TM 96-2 showed susceptible reaction.

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The genetics of resistance against rust disease caused by Melamspora lini in linseed or flax was studied in F1, F2, BC1 and BC2 generations of a susceptible variety T-397, crossed with a resistant variety Surbhi. On the basis of the segregating ratio obtained in F2 and backcross generations of the cross, T-397 × Surbhi i.e., (3:1) in F2 and (1:1) in BC1 revealed that single dominant gene is responsible for resistance against rust in these linseed genotypes under study.

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Primary immunodeficiency disease (PID) is a disorder caused by an inherited flaw in the immune system that increases the susceptibility to infections.

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Sorghum shoot fly [Atherigona soccata (Rondani)] is one of the most important pests of grain sorghum. It is important to understand the nature of gene action to breed for resistance to the target insect pest. In the present study, a population of 259 sorghum recombinant inbred lines (RILs) derived from cross 296B (shoot fly susceptible) x IS 18551 (shoot fly resistant) were evaluated in shoot fly screening nursery to study the inheritance of shoot fly resistance. Variances due to RIL genotypes (G), screening environment (E) and G x E interactions were significant for the traits studied.

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I wrote the first edition of this book more than 20 years ago, and the discoveries in genetics since then have been phenomenal. The new knowledge and applications of human genetics to health and to society have made it even more necessary that nurses "think genetically" in their practice and, indeed in their lives. Genetic factors can be responsible in some way for both direct and indirect disease causation; for variation that determines predisposition, susceptibility, and resistance to disease and also for response to therapeutic management.

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Over the last three decades, knowledge on the molecular biology of human cancers has vastly expanded. A host of genes and proteins involved in cancer development and progression have been defined and many mechanisms at the molecular, cellular and even tissue level have been, at least partly, elucidated. Insights have also been gained into the molecular mechanisms underlying carcinogenesis by chemical, physical, and biological agents and into inherited susceptibility to cancer. Accordingly, Part I of the book presents many of the molecules and mechanisms generally important in human cancers.

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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: The inheritance of halothane susceptibil

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PNH has about the same frequency in men and women, and it is encountered in all populations throughout the world, but it is a rare disease: its prevalence is 1–5 per million (it may be somewhat less rare in Southeast Asia and in the Far East). There is no evidence of inherited susceptibility. PNH has never been reported as a congenital disease, but it can present in small children or in people in their seventies, although most patients are young adults. Clinical Features The patient may seek medical attention because one morning she or he has passed "blood instead of urine."...

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