We analyze a degenerate diffusion equation with singular boundary data, modeling the evolution of a polygenic trait under selection and drift. The equation models the contributions of a large but finite number of loci (genes) to the trait and at the same time allows the population trait mean to vary in a way that affects the strength of selection at individual loci; in this respect it differs f...

OBJECTIVES Balance and motor disturbances are significant symptoms commonly associated with hereditary motor and sensory neuropathy (HMSN), also known as Charcot-Marie-Tooth disease (CMT). Although CMT is a progressive neurological disease, comprehensive physiotherapeutic strategies may improve balance and motor patterns, and, therefore, enhance the quality of life (ADL). CASE PRESENTATION A ...

objective hereditary spastic paraplegia (hsp) is a degenerative disease of genetic origin affecting the corticospinal tracts in the spinal cord. there are three forms of inheritance: autosomal dominant hsp, autosomal rececive hsp and x-linked hsp. this disease is characterized by progressive spasticity of leg muscles with varying degrees of stiffness and weakness of other muscle groups. in this...

The FANCJ DNA helicase is mutated in hereditary breast and ovarian cancer as well as the progressive bone marrow failure disorder Fanconi anemia (FA). FANCJ is linked to cancer suppression and DNA double strand break repair through its direct interaction with the hereditary breast cancer associated gene product, BRCA1. FANCJ also operates in the FA pathway of interstrand cross-link repair and c...

A number of naturally occurring mutations of human apolipoprotein A-I (apoA-I) have been associated with hereditary amyloidoses. The molecular mechanisms involved in amyloid-associated pathology remain largely unknown. Here we examined the effects of the Arg173Pro point mutation in apoA-I on the structure, stability, and aggregation propensity, as well as on the ability to bind to putative liga...

abstract background: hereditary red cell enzyme disorders are a group of non-immune/spherocytic hemolytic anemia, although these disorders are rare and they have not public health problems, the detection of these defects could help to physician in treatment and differential diagnosis. this study evaluated 5 enzymopathies in patients with hereditary non –immune/spherocytic hemolytic anemia (hnsh...

background: intrauterine growth retardation (iugr) contributes significantly to fetal morbidity and mortality, but its etiology is unknown in most cases. objective: the aim of this study was to examine the association between inherited thrombophilia and iugr. materials and methods: a case-control study was performed in a tertiary referral center (afzalipour hospital) over 2-years period (2010-2...

Genetic variations found in the coding and non-coding regions of a gene are known to influence the structure as well as the function of proteins. Serine palmitoyltransferase long chain subunit 1 a member of α-oxoamine synthase family is encoded by SPTLC1 gene which is a subunit of enzyme serine palmitoyltransferase (SPT). Mutations in SPTLC1 have been associated with hereditary sensory and auto...

approximately 5-10% of all thyroid cancers are medullary thyroid carcinomas (mtc). mtc is mainly sporadic in nature, but 20-30% of cases are hereditary. genetic testing for hereditary mtc is very important for the patient and his family, but the patients must be receiving appropriate genetic counseling. about 98% of patients with hereditary mtc have germline mutations in exons 10, 11, 13, 14, 1...