1. Beginning with a single propositus, who had been previously diagnosed at the age of 10 as suffering from trimethylaminuria (fish-odour syndrome), both her parents and two sisters were investigated biochemically with respect to their ability to N-oxidize trimethylamine (TMA), both when derived from the diet and when administered exogenously. 2. Both the propositus and a second sister were mar...

A 39-year old man presented 13 years ago with a history of progressive loss of vision and photophobia. A full ophthalmological and ENT work-up during several years of follow-up, including psychophysical as well as electrophysiological tests, revealed a progressive cone dystrophy in combination with sensorineural hearing loss. His younger sister presented with very similar features and underwent...

I have chosen to explore how linear algebra can be applied to genetics. More specifically, I will focus entirely on the phenomena of autosomal inheritance. My goal is to show how linear algebra can be used to predict the genotype distribution of a particular trait in a population after any number of generations from only the genotype distribution of the initial population. In order to perform s...

Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1- 4, 5a,b, 6-8, 10-13 and 15-18 (loci DYT 1-4, 5a,b, 6-8, 10-13, 15-18) have been recognized. Twelve forms are inherited as autosomal dominant, four as autosomal recessive and one as an X-linked recessive trait. Three additional autosomal dominant forms (DYT9, DYT19 and DYT20) might exist based on linkage mapping to re...

The history of modern genetics begins with the experiments of Gregor Mendel (1822-1884). Mendel found that when hereditary traits were followed through successive generations of hybridisation, the numbers of offspring that resembled parental types were in simple numerical ratios relative to one another – 1:1, or 3:1, or 9:3:3:1, and so on. The most straightforward explanation of these numbers w...

background: essential hypertension tends to a familial mode. its pattern of inheritance is heterogeneous, but the frequencies of different mode of inheritance vary in different populations. determining of the mode of inheritance in each family is the basic information that is needed for the risk estimation in those family members. determination of pattern of inheritance in families with at leas...

lipoid proteinosis is a rare hereditary metabolic disorder transmitted as an autosomal recessive trait. it is characterized by the deposition of an amorphous hyaline-like material (glycoprotein) in the mucous membranes, skin and various internal organs. cryosurgery (n2o) was applied to remove and reshape the lip lesions in a case of this rare syndrome. the patient was a 24-year-old female. cryo...

OBJECTIVES/HYPOTHESIS Hearing loss and enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by mutant alleles of the SLC26A4 gene. In some other families, EVA does not segregate in a typical autosomal recessive pattern. The goal of this study was to characterize the SLC26A4 genotypes and phenotypes of extended families with atypical segregation of EVA. ST...

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR) form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-...

Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is deficiency acid beta-galactosidase (GLB11) resulting in storage substrate- ganglioside brain and visceral organs. gangliosidosis comprises three phenotypes, depending on age onset: infantile, juvenile adult type. In infant...