Russell-Silver syndrome is a genetic disorder the inheritance pattern of which is mostly sporadic. Some of the features of the syndrome are present at birth, and others appear in later years. The main clinical features include low birth weight, poor growth postnatally, short height, and discrepancies in size between the two sides of the body Abu-Amera et al. (2008), Binder et al. (2011). There ...

Our understanding of the cardiovascular system has evolved through the years by extensive studies emphasizing the identification of the molecular and physiological mechanisms involved in its normal function and disease pathogenesis. Major discoveries have been made along the way. However, the majority of this work has focused on specific genes or pathways rather than integrative approaches. In ...

Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishment of inheritance pattern, and early detection of potentially affected relatives. The present st...

Virgil Sydenstricker was a member of a notable American family which included authoress Pearl S. Buck and the eminent epidemiologist Edgar Sydenstricker. Dr. Sydenstricker's contributions in the fields of hematology and nutritional disease are legion. His landmark work in sickle cell anemia characterized a definite symptom complex with specific hematologic findings and inheritance pattern. He w...

Homozygosity mapping has played an important role in detecting recessive mutations using families of consanguineous marriages. However, detection of regions identical and homozygosity by descent (HBD) when family data are not available, or when relationships are unknown, is still a challenge. Making use of population data from high-density SNP genotyping may allow detection of regions HBD from ...

Mitochondrial interactions with the nuclear genome represent one of life's most important co-evolved mutualisms. In many organisms, mitochondria are maternally inherited, and in these cases, co-transmission between the mitochondrial and nuclear genes differs across different parts of the nuclear genome, with genes on the X chromosome having two-third probability of co-transmission, compared wit...

During the mid-nineteenth century, Johann Gregor Mendel experimented with pea plants to develop a theory of inheritance. In 1843, while a monk in the Augustian St Thomas?s Abbey in Brünn, Austria, now Brno, Czech Repubic, Mendel examined the physical appearance of the abbey?s pea plants ( Pisum sativum [4]) and noted inconsistencies between what he saw and what the blending theory of inheritanc...

Helitrons constitute a superfamily of DNA transposons that were discovered in silico and are widespread in most eukaryotic genomes. They are postulated to mobilize through a "rolling-circle" mechanism, but the experimental evidence of their transposition has been described only recently. Here, we present the inheritance patterns of HELPO1 and HELPO2 helitron families in meiotically derived prog...

Alzheimer's disease (AD)-the most common type of dementia among the elderly-represents one of the most challenging and urgent medical mysteries affecting our aging population. Although dominant inherited mutation in genes involved in the amyloid metabolism can elicit familial AD, the overwhelming majority of AD cases, dubbed sporadic AD, do not display this Mendelian inheritance pattern. Apolip...

Dosage studies and the inheritance pattern of the gene for steroid sulfatase (Sts) in the mouse have previously provided indirect evidence for a functional Y-linked allele which recombines obligatorily with its X-linked allele in male meiosis. In this study, we have investigated the linkage relationship of Sts and the sex-reversed mutation (Sxr), a gene which is known to reside in the pairing r...