ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb02223.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

AbstractMethodologies and tools for the construction of complete, primary genetic linkage maps of human chromosomes are emerging. Special families, optimal because of family structure for revealing linkage relationships, have been sampled and a number of genotypic determinations gathered. The associated genotypic database and the cell lines are available to the research community through theCentre d'Etude du Polymorphisme Humainin Paris, and form the basis for an international collaboration in the effort to map the entire human genome. Genetic diseases that are known only by their phenotype can be mapped to chromosomes when they co‐segregate with known map markers; localization of a disease gene represents an important step toward its characterization. New markers for hypervariable loci, highly efficient for mapping purposes, are being developed. Primary maps spanning several chromosomes are already in han

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb02224.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb02225.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb02226.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

AbstractDNA labeled with non‐radioactive markers has been utilized for detection of specific DNA or RNA either on filters or in cells and tissues. The presence of protruding markers on the probe DNA has been considered to be a cause for loss of sensitivity and specificity of hybridization. As a non‐protruding marker, we introduced the use of T‐T dimer, which can be generated easily and is a potent hapten. As a marker for DNA, T‐T dimer in DNA was generated by UV irradiation. The T‐T dimerized DNA (T‐T DNA) was then hybridized with complementary DNA or mRNA either on a nitrocellulose filter or in cells. Then the hybridized T‐T DNA was detected immunohistochemically using rabbit anti‐T‐T DNA and peroxidase‐labeled goat anti‐rabbit IgG. The use of T‐T as marker offers several advantages over other markers; it appears not to interfere with hybridization efficiency, is simple to make and can be detecte

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb02227.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb02228.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

AbstractEleven site‐specific gene probes derived from human chromosome 21 were assigned to each region on the original chromosome byin situhybridization. These probes were isolated from a lambda library, which contains inserts from chromosome 21 in the human‐mouse hybrid cell WA17. This cell contains chromosome 21 as its only human chromosome. These single copy inserts had unique DNA sequence and had been screened for restriction fragment length polymorphism (RFLP) in the DNA of unrelated humans.Among the eleven probes, five were assigned to 21q22.3, two to 21 ql 1, and the four remaining genes were respectively assigned to 21 ql 1 ‐ 21q21, 21q21, 21q21 ‐ 21q22.1, and a centromeric region. The gene locus of superoxide dismutase‐1 (SOD‐1) was determined to be at 21q22.1. Since region q22 is suggested to be the gene loci of the main features of Down syndrome, probes in the region may yield information about this disorder. A pericentric probe is useful in determining predisposition to non‐disjunction in 21 trisomy. We determined gene loci for these site‐specific gene probes in order to make a complete gene map of

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb02229.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

AbstractSeveral diseases with non‐mendelian maternal inheritance patterns have been described, some of which appeared to be associated with abnormal mitochondrial structure or function and might result from the inheritance of an abnormal mitochondrial genome. New techniques in molecular genetics should clarify the molecular basis of these maternally inherited developmental disorders. From families with maternally inherited mitochondrial disorders we conducted a search for an alteration in nucleotide analysis of the mitochondrial DNA obtained from the lymphocytes of the patients. Although it was possible to identify a single substitution (CTT/ATT) in one of five clones in which were transcribed the gene of cytochrome C oxidase subunit II, it was impossible to define the mismatched site by the method of RNA/DNA mapping (Myers, 1985) using a labelled RNA probe containing a cytochrome C oxidase gene which was obtained from normal placenta cells. A congenital myotonic dystrophy is known to be inherited through an autosomal dominant gene, and yet the age of onset and the severity of the disease are influenced by non‐mendelian maternal inheritance. We previously proposed that an abnormality of bile acid metabolism could affect the fetus, resulting perhaps in delayed development. A possible model for this effect might involve the interaction of mitochondrial function with an autosomal gene product, leading to erroneous replication with a mutant form of the polymerase subu

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb02230.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb02231.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

AbstractIn the introduction I express the need of introducing the point of view of Ethics when we are dealing with problems of science, technology, and especially medicine.In the first part of my presentation I deal with the problem of the value of human life, coming to the conclusion that human life might not be completely absolute, but is extremely important and “ceteris paribus” should be respected, and the problem of when it starts. Some of the main arguments are discussed. In this connection the question of abortion is briefly discussed.In the second part I deal with some problems related to human reproduction. Most people will be willing to support programmes for treating individuals with genetic disease; but at the same time the dangers of increasing depersonalization of the reproductive process are pointed out.In the third part I take up the problem of In Vitro Fertilisation. IVF has certainly brought benefits to some couples suffering from infertility, but at the same time it has raised quite a few human and moral problems. Is it permissible to fertilise an egg with a donor sperm, replacing the embryo in the womb? What about fertilising a donor egg with the husband's sperm? Is it acceptable to store or freeze embryos for future use? Is it moral to implant such an embryo in a woman who has no genetic relationship with the embryo? Is it moral to use surrogate mothers? Is it moral for ‘spare’ embryos to be killed or used as tissue for research?At the end I stress the need of dialogue between life sciences and

ISSN:1328-8067    

DOI:10.1111/j.1442-200X.1987.tb02232.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY