BIOMAT Database Logo BIOMAT Database Logo

Genotyping of cystic fibrosis families with linked DNA probes. 1988

A Curtis, and L Strain, and D J Brock
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.

Forty-six British families, containing at least one child affected with cystic fibrosis, were typed for restriction fragment length polymorphisms (RFLPs) by the probes pmet H, pmet D, pJ3.11 and 7c22. Thirty-five (76%) were fully informative for prenatal diagnosis and carrier detection, while in the remainder prenatal exclusion of an affected fetus could be carried out in half the pregnancies. The frequencies of individual alleles did not differ between cystic fibrosis and normal chromosomes. However, the previously noted excess of one haplotype on chromosomes carrying the cystic fibrosis gene was confirmed.

UI MeSH Term Description Entries
D008297 Male Males
D010290 Parents Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent. Step-Parents,Parental Age,Parenthood Status,Stepparent,Age, Parental,Ages, Parental,Parent,Parental Ages,Status, Parenthood,Step Parents,Step-Parent,Stepparents
D011110 Polymorphism, Genetic The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D003550 Cystic Fibrosis An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION. Mucoviscidosis,Cystic Fibrosis of Pancreas,Fibrocystic Disease of Pancreas,Pancreatic Cystic Fibrosis,Pulmonary Cystic Fibrosis,Cystic Fibrosis, Pancreatic,Cystic Fibrosis, Pulmonary,Fibrosis, Cystic,Pancreas Fibrocystic Disease,Pancreas Fibrocystic Diseases
D005260 Female Females
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes

Related Publications

A Curtis, and L Strain, and D J Brock
Cystic fibrosis: typing 48 German families with linked DNA probes.
April 1987, Human genetics,
A Curtis, and L Strain, and D J Brock
Cystic fibrosis: typing 89 German families with linked DNA probes.
December 1988, Human genetics,
A Curtis, and L Strain, and D J Brock
Genotyping of spinal muscular atrophy families with linked DNA probes.
December 1992, Clinical genetics,
A Curtis, and L Strain, and D J Brock
Studies of cystic fibrosis in Hutterite families by using linked DNA probes.
December 1987, American journal of human genetics,
A Curtis, and L Strain, and D J Brock
First trimester diagnosis of cystic fibrosis with linked DNA probes.
January 1990, Acta Universitatis Carolinae. Medica,
A Curtis, and L Strain, and D J Brock
Prenatal diagnosis of cystic fibrosis using linked DNA probes.
October 1988, Prenatal diagnosis,
A Curtis, and L Strain, and D J Brock
How many families will be informative for prenatal prediction of cystic fibrosis with multiple linked DNA probes?
August 1986, Lancet (London, England),
A Curtis, and L Strain, and D J Brock
First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes.
June 1986, Lancet (London, England),
A Curtis, and L Strain, and D J Brock
Prenatal diagnosis of cystic fibrosis using closely linked DNA probes.
January 1989, Journal of inherited metabolic disease,
A Curtis, and L Strain, and D J Brock
Genetic counseling using linked DNA probes: cystic fibrosis as a prototype.
December 1988, The Journal of pediatrics,
Copied contents to your clipboard!