Molecular analysis of human monogenic diseases

Abstract

SummaryOver one hundred genes have been isolated from the human genome and shown to be causally related to specific human genetic diseases. Studies with gene-specific probes have demonstrated that the mutations resulting in aparticular phenotype are highly heterogeneous as a group, ranging from alterations in transcription or RNA processing in the nucleus, through to errors in mRNA translation in the cytoplasm. Even where the gene-speciJic probe is not available, defects have been localized to chromosomal regions by family studies. Recently developed methods for moving along the chromosome from a linked marker to the mutation are resulting in rapid advances in the understanding of many monogenic disorders.

Restriction fragment length polymorphisms associated with growth hormone and prolactin genes in Holstein bulls: evidence for a novel growth hormone allele

“…Because RFLPs are not restricted to changes that affect phenotype, they may also serve as genetic markers if linked to a genotype of interest (Beckmann & Soller 1983;Smith & Simpson 1986). As markers, they have generated an enormous interest in the diagnosis of genetic disorders in humans (Kazazian 1985;Davies & Robson 1987). Linkage of RFLPs to characteristics which are polygenic in nature could provide a means of predicting the genetic value from the RFLP genotype.…”

The role of cloned genes in the prevention of genetic disease

“…The same applies to the severe form of oq antitrypsin deficiency (Kidd et al 1984). But there is increasing evidence for heterogeneity as evidenced by studies of the molecular pathology of growth hormone deficiency, anti thrombin III deficiency and several other autosomal conditions (see Gusella 1986;Cooper & Schmidtke 1986;Davies & Robson 1987).…”