ABSTRACT
The frequency distribution of Y-chromosome haplotypes at DNA polymorphism p49/TaqI was studied in a sample of 505 North Africans from Mauritania, Morocco, Algeria, Tunisia, Libya, and Egypt. A particularly high frequency (55.0%) of Y-haplotype 5 (A2, C0, D0, F1, I1) was observed in these populations, with a relative predominance in those of Berber origin. Examination of the relative frequencies of other haplotypes in these populations, mainly haplotype 4 (the "African" haplotype), haplotype 15 (the "European" haplotype), and haplotypes 7 and 8 (the "Near-East" haplotypes), permit useful comparisons with neighboring peoples living in sub-Saharan Africa, Europe, and the Near East.
Subject(s)
DNA/genetics , Ethnicity/genetics , Y Chromosome/genetics , Adult , Africa, Northern/epidemiology , Asian People/genetics , Black People/genetics , France/ethnology , Gene Frequency , Genetic Variation , Genetics, Population , Haplotypes/genetics , Humans , Male , Oligonucleotide Array Sequence Analysis , Sampling Studies , White People/geneticsABSTRACT
We collected 7 Friedreich ataxia (FRDA) pedigrees from France. All cases but one family were homozygous for an unstable GAA trinucleotide expansion in the first intron of the frataxin gene. In this peculiar pedigree absence of the GAA expansion supports the notion of possible genetic heterogeneity of FRDA.
Subject(s)
Friedreich Ataxia/genetics , Trinucleotide Repeats/genetics , Adult , Chromosomes, Human, Pair 9 , Female , France , Genetic Markers , Genome , Humans , Male , PedigreeABSTRACT
DNA samples from Ashkenazic and Sephardic Jews were studied with the Y-chromosome-specific DNA probes p49f and p49a to screen for restriction fragment length polymorphisms and haplotypes. Two haplotypes (VII and VIII) are the most widespread, representing about 50% of the total number of haplotypes in Jews. The major haplotype in Oriental Jews is haplotype VIII (85.1%); haplotype VIII is also the major haplotype in the Djerban Jews (77.5%) (Djerban Jews represent probably one of the oldest Jewish communities). Together these results confirm that haplotype VIII is the ancestral haplotype in Jews.
Subject(s)
DNA Probes/genetics , Jews/genetics , Y Chromosome/genetics , Chromosome Mapping , DNA Probes/analysis , Haplotypes/genetics , HumansABSTRACT
Molecular characterization of Charcot-Marie-Tooth patients in 15 pedigree from France: We collected 15 Charcot-Marie-Tooth (CMT) pedigrees from France. DNA polymorphisms analysis by Southern blotting with probes at the D17S122 locus demonstrated 17p duplication in three CMT1a families and in one sporadic case. Two families affected by CMT2 showed no evidence of the duplication.
Subject(s)
Charcot-Marie-Tooth Disease/genetics , Chromosome Aberrations/genetics , DNA Probes , Blotting, Southern , Charcot-Marie-Tooth Disease/classification , Chromosome Disorders , Chromosomes, Human, Pair 17 , Consanguinity , Female , France , Genes, Dominant/genetics , Humans , Male , PedigreeABSTRACT
Apolipoprotein E, type epsilon 4 allele (ApoE epsilon 4), is associated with late-onset sporadic Alzheimer's disease (AD) in French patients. The association is highly significant (0.45 AD versus 0.12 controls for epsilon 4 allele frequencies). These data support the involvement of ApoE epsilon 4 allele as a very important risk factor for the clinical expression of AD.
Subject(s)
Alleles , Alzheimer Disease/genetics , Apolipoproteins E/genetics , Aged , Base Sequence , DNA/analysis , Genotype , Humans , Middle Aged , Molecular Sequence Data , Time FactorsABSTRACT
The results of DNA analysis for the unstable CTG repeat are reported in a french family of myotonic dystrophy. This retrospective study confirms results obtained previously with a linked DNA marker, using the CTG repeat DNA sequence in the same family. The demonstrated possibility of predicting phenotype as well as genotype in prenatal diagnosis is important for such a disorder, were subjects may be severely affected.
Subject(s)
Cardiotocography , Myotonic Dystrophy/genetics , Prenatal Diagnosis , Adult , Apolipoprotein C-II , Apolipoproteins C/genetics , Chorionic Villi Sampling , DNA Probes , Female , Genetic Counseling , Genetic Linkage/genetics , Genetic Markers/genetics , Humans , Infant, Newborn , Myotonic Dystrophy/diagnosis , Pedigree , Phenotype , Polymorphism, Genetic , Pregnancy , Retrospective StudiesABSTRACT
We describe a polymerase chain reaction (PCR) based on the simultaneous detection of multiple strains of papillomavirus in a single reaction tube. This PCR method was specific and sensitive. We have validated this multiplex procedure on a collection of typed cervical biopsies specimens, and applied it to the detection of viruses in some clinical samples.
Subject(s)
DNA, Viral/analysis , Papillomaviridae/isolation & purification , Papillomavirus Infections/diagnosis , Polymerase Chain Reaction/methods , Uterine Cervical Diseases/diagnosis , Adolescent , Adult , Base Sequence , Cervix Uteri/microbiology , DNA Primers , Female , Humans , Molecular Sequence Data , Papillomaviridae/genetics , Sensitivity and Specificity , Tumor Virus Infections/diagnosis , Vaginal Smears , Uterine Cervical Dysplasia/diagnosisABSTRACT
Portuguese type amyloidosis is an autosomal dominant condition caused by a mutation in the transthyretin gene. This mutation can be detected directly by the presence of a restriction site for NsiI. We report here our first prenatal diagnosis for this condition performed by chorionic villus sampling, polymerase chain reaction, and restriction enzyme digestion.
Subject(s)
Amyloid Neuropathies/genetics , Prenatal Diagnosis , Amyloid Neuropathies/diagnosis , Chorionic Villi Sampling , Chromosome Aberrations/genetics , Chromosome Disorders , Female , France , Genes, Dominant/genetics , Humans , Mutation/genetics , Polymerase Chain Reaction , Portugal/ethnology , Prealbumin/genetics , PregnancySubject(s)
Alzheimer Disease/genetics , Amyloid beta-Peptides/genetics , Amyloidosis/genetics , Humans , MutationSubject(s)
Huntington Disease/genetics , Prenatal Diagnosis/methods , Female , Humans , Huntington Disease/diagnosis , Pedigree , PregnancyABSTRACT
The presymptomatic diagnosis of Huntington chorea (HC) by genic amplification (PCR: polymerase chain reaction) of a DNA G8 sequence containing a polymorphic HindIII site was tested in a particular HC genealogy. The advantage of this method are discussed.
Subject(s)
Huntington Disease/diagnosis , Nucleic Acid Amplification Techniques , Gene Amplification/genetics , Humans , Huntington Disease/genetics , PedigreeABSTRACT
Huntington disease (HD) is a neurodegenerative disorder caused by an autosomal dominantly inherited defect. The discovery of DNA polymorphisms genetically linked to the HD locus provided the possibility of an early presymptomatic test. The first marker locus described (G-8) had an approximately 5% recombination rate with the HD locus, and the subsequent discovery of some more tightly linked marker loci, notably D 495, has greatly improved the accuracy of presymptomatic testing. We describe here the preliminary results obtained and the difficulties encountered in a French predictive testing program on presymptomatic subjects belonging to choreic families.
Subject(s)
DNA Probes , Genomic Library , Huntington Disease/genetics , Polymorphism, Restriction Fragment Length , France , Haplotypes , Heterozygote , Humans , Pedigree , Risk FactorsABSTRACT
Linkage analysis was undertaken in seven French families with facioscapulohumeral muscular dystrophy (FSHD). Six polymorphic DNA probes were studied, including random DNA sequences, coding sequences, and a hypervariable marker. No evidence for linkage of these probes to the disease was detected, and the results exclude probable location of the FSHD gene from three chromosomal regions (16p, proximal 19q, and 21q).
Subject(s)
Chromosome Mapping , Genetic Linkage , Muscular Dystrophies/genetics , Chromosome Mapping/methods , Chromosomes, Human, Pair 16 , Chromosomes, Human, Pair 19 , Chromosomes, Human, Pair 21 , DNA Probes , Data Interpretation, Statistical , France , Humans , Muscular Dystrophies/pathologyABSTRACT
We analyzed the segregation between fragile site Xq 27 and flanking polymorphic probes (52A, for factor 9, 4D-8, for factor 8, St14 and MN12) in a great Xq-fra pedigree. On the basis of these data, the use of these probes is discussed in view of its value as a diagnostic tool.
Subject(s)
DNA Probes , Fragile X Syndrome/diagnosis , Mental Disorders/genetics , Sex Chromosome Aberrations/diagnosis , Female , Humans , Male , Pedigree , Polymorphism, Genetic , Recombination, GeneticABSTRACT
The Y specific probe (two 49f and 49a sub-clones) is a polymorphic one for the A (5 alleles), C (2 alleles), D (3 alleles), F (2 alleles) and I (2 alleles). We show that the corresponding allelic combinations, or haplotypes, are transmitted father-to-son in eleven random chosen families. Utilisation of these polymorphisms in other eleven father-son paternitity cases, studied for a panel of erythrocytic and seric markers, shows a good correlation between the two approaches, most of the paternies excluded by the Y probes being also excluded with other allotypic markers. Utilisation of this sort of polymorphism does not necessitate the knowledge of maternal genotype in families studied.
Subject(s)
DNA Probes , Paternity , Polymorphism, Genetic , Polymorphism, Restriction Fragment Length , Y Chromosome , Humans , PedigreeABSTRACT
Segregation studies of X-linked adrenoleukodystrophy (ALD) and a cloned desoxyribonucleic fragment (factor VIII gene), which detects polymorphism in the distal end of the long arm of the X chromosome (Xq28), are reported in a large sibship ALD family. The findings should permit better identification of carriers and add a new marker for identifying the ALD gene itself.