scholarly journals Delineation of specific beta-thalassemia mutations in high-risk areas of Italy: a prerequisite for prenatal diagnosis

Blood ◽  
1988 ◽  
Vol 71 (4) ◽  
pp. 983-988 ◽  
Author(s):  
M Pirastu ◽  
G Saglio ◽  
C Camaschella ◽  
A Loi ◽  
A Serra ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Dna Analysis ◽  
Restriction Endonuclease Analysis ◽  
Beta Thalassemia ◽  
Italian Population ◽  
Oligonucleotide Hybridization ◽  
Frequent Mutations ◽  
Risk Areas ◽  
Compound Heterozygotes ◽  
Endonuclease Analysis

Abstract In this study, we defined by haplotype characterization combined with oligonucleotide hybridization or direct restriction endonuclease analysis the specific beta-thalassemia mutations in a representative sample of beta-thalassemia chromosomes from patients with homozygous beta-thalassemia originating from different parts of Italy. We characterized the mutations in 90% of the thalassemia chromosomes and found that three mutations, namely the beta+IVS 1–110, beta degrees -39 and beta+IVS 1–6 are prevalent in the Italian population. Most of the patients investigated were compound heterozygotes for two beta- thalassemia mutations, and only a few were homozygotes for one mutant. On the basis of these findings, we predict that prenatal diagnosis in this population would be feasible in most cases by fetal DNA analysis with the oligonucleotide method using a limited number of oligonucleotide probes selected after screening parents for the most common beta-thalassemia mutations. We have also devised a method based on hybridization with a mixture of two oligonucleotides that allows rapid and simultaneous screening of prospective parents for the two most frequent mutations in Italians, the beta+IVS 1–110 and beta degrees -39 mutants. This method may be applicable to prenatal diagnosis in cases at risk for the genetic compound of these mutations.

scholarly journals Delineation of specific beta-thalassemia mutations in high-risk areas of Italy: a prerequisite for prenatal diagnosis

Blood ◽  
1988 ◽  
Vol 71 (4) ◽  
pp. 983-988
Author(s):  
M Pirastu ◽  
G Saglio ◽  
C Camaschella ◽  
A Loi ◽  
A Serra ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Dna Analysis ◽  
Restriction Endonuclease Analysis ◽  
Beta Thalassemia ◽  
Italian Population ◽  
Oligonucleotide Hybridization ◽  
Frequent Mutations ◽  
Risk Areas ◽  
Compound Heterozygotes ◽  
Endonuclease Analysis

In this study, we defined by haplotype characterization combined with oligonucleotide hybridization or direct restriction endonuclease analysis the specific beta-thalassemia mutations in a representative sample of beta-thalassemia chromosomes from patients with homozygous beta-thalassemia originating from different parts of Italy. We characterized the mutations in 90% of the thalassemia chromosomes and found that three mutations, namely the beta+IVS 1–110, beta degrees -39 and beta+IVS 1–6 are prevalent in the Italian population. Most of the patients investigated were compound heterozygotes for two beta- thalassemia mutations, and only a few were homozygotes for one mutant. On the basis of these findings, we predict that prenatal diagnosis in this population would be feasible in most cases by fetal DNA analysis with the oligonucleotide method using a limited number of oligonucleotide probes selected after screening parents for the most common beta-thalassemia mutations. We have also devised a method based on hybridization with a mixture of two oligonucleotides that allows rapid and simultaneous screening of prospective parents for the two most frequent mutations in Italians, the beta+IVS 1–110 and beta degrees -39 mutants. This method may be applicable to prenatal diagnosis in cases at risk for the genetic compound of these mutations.

scholarly journals Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations.

Genetics ◽  
1992 ◽  
Vol 130 (1) ◽  
pp. 139-152 ◽  
Author(s):  
S W Ballinger ◽  
T G Schurr ◽  
A Torroni ◽  
Y Y Gan ◽  
J A Hodge ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Restriction Endonuclease Analysis ◽  
Asian Populations ◽  
Insertion And Deletion ◽  
Oligonucleotide Hybridization ◽  
Mitochondrial Dnas ◽  
Genetic Continuity ◽  
Polymerase Chain ◽  
Mtdna Diversity ◽  
Endonuclease Analysis

Abstract Human mitochondrial DNAs (mtDNAs) from 153 independent samples encompassing seven Asian populations were surveyed for sequence variation using the polymerase chain reaction (PCR), restriction endonuclease analysis and oligonucleotide hybridization. All Asian populations were found to share two ancient AluI/DdeI polymorphisms at nps 10394 and 10397 and to be genetically similar indicating that they share a common ancestry. The greatest mtDNA diversity and the highest frequency of mtDNAs with HpaI/HincII morph 1 were observed in the Vietnamese suggesting a Southern Mongoloid origin of Asians. Remnants of the founding populations of Papua New Guinea (PNG) were found in Malaysia, and a marked frequency cline for the COII/tRNA(Lys) intergenic deletion was observed along coastal Asia. Phylogenetic analysis indicates that both insertion and deletion mutations in the COII/tRNA(Lys) region have occurred more than once.

scholarly journals Alpha-thalassemia in two Mediterranean populations

Blood ◽  
1982 ◽  
Vol 60 (2) ◽  
pp. 509-512
Author(s):  
M Pirastu ◽  
KY Lee ◽  
AM Dozy ◽  
YW Kan ◽  
G Stamatoyannopoulos ◽  
...  
Keyword(s):  
Population Sample ◽  
Restriction Endonuclease Analysis ◽  
Beta Thalassemia ◽  
Globin Genes ◽  
Mediterranean Islands ◽  
Mediterranean Populations ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Greek Cypriots ◽  
Endonuclease Analysis

We used restriction endonuclease analysis to determine the incidence of alpha-thalassemia in two Mediterranean islands. In a random population sample, the gene frequency of deletion-type alpha-thalassemia-2 (- alpha) was 0.18 in Sardinians and 0.07 in Greek Cypriots. All cases were the rightward crossover type. From these frequencies and the known incidence of hemoglobin-H disease in these populations, we calculated the frequency of the alpha-thalassemia-1 genotype (--) and determined that it was low. We also found that beta-thalassemia homozygotes in sardinia have a higher incidence of alpha-thalassemia than normals and beta thalassemia heterozygotes because a significantly greater number of these homozygotes are also homozygous for the alpha-thalassemia-2 lesion. These findings support the theory that coinheritance of alpha- thalassemia mitigates the severity of beta-thalassemia and suggest that the protection is most pronounced when two alpha-globin genes are deleted.

scholarly journals Alpha-thalassemia in two Mediterranean populations

Blood ◽  
1982 ◽  
Vol 60 (2) ◽  
pp. 509-512 ◽  
Author(s):  
M Pirastu ◽  
KY Lee ◽  
AM Dozy ◽  
YW Kan ◽  
G Stamatoyannopoulos ◽  
...  
Keyword(s):  
Population Sample ◽  
Restriction Endonuclease Analysis ◽  
Beta Thalassemia ◽  
Globin Genes ◽  
Mediterranean Islands ◽  
Mediterranean Populations ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Greek Cypriots ◽  
Endonuclease Analysis

Abstract We used restriction endonuclease analysis to determine the incidence of alpha-thalassemia in two Mediterranean islands. In a random population sample, the gene frequency of deletion-type alpha-thalassemia-2 (- alpha) was 0.18 in Sardinians and 0.07 in Greek Cypriots. All cases were the rightward crossover type. From these frequencies and the known incidence of hemoglobin-H disease in these populations, we calculated the frequency of the alpha-thalassemia-1 genotype (--) and determined that it was low. We also found that beta-thalassemia homozygotes in sardinia have a higher incidence of alpha-thalassemia than normals and beta thalassemia heterozygotes because a significantly greater number of these homozygotes are also homozygous for the alpha-thalassemia-2 lesion. These findings support the theory that coinheritance of alpha- thalassemia mitigates the severity of beta-thalassemia and suggest that the protection is most pronounced when two alpha-globin genes are deleted.

A review of hemorrhagic septicemia in cattle and buffalo

2011 ◽  
Vol 12 (1) ◽  
pp. 67-82 ◽  
Author(s):  
S. B. Shivachandra ◽  
K. N. Viswas ◽  
A. A. Kumar
Keyword(s):  
Protective Immunity ◽  
Pasteurella Multocida ◽  
Dna Analysis ◽  
Restriction Endonuclease Analysis ◽  
Pcr Analysis ◽  
Tropical Regions ◽  
Specific Pcr ◽  
Polymerase Chain ◽  
Specific Pcr Assay ◽  
Endonuclease Analysis

AbstractHemorrhagic septicemia (HS), an acute, fatal and septicemic disease of cattle and buffaloes caused byPasteurella multocida, is important in tropical regions of the world, especially in African and Asian countries. The prevalence of disease has been well documented with predominant isolation ofP. multocidaserotypes B:2 and E:2. Conventional methods of identification such as serotyping, biotyping, antibiogram determination and pathogenicity as well as molecular methods (P. multocida-specific polymerase chain reaction (PCR), a serogroup B-specific PCR assay, multiplex capsular typing system and loop-mediated isothermal amplification techniques) and characterization (restriction endonuclease analysis, randomly amplified polymorphic DNA analysis, repetitive extragenic palidromic PCR and enterobacterial repetitive intergenic consensus PCR analysis) are applied in parallel for rapid epidemiological investigations of HS outbreaks. Although several vaccine formulations including alum precipitated, oil adjuvant and multiple emulsion vaccines are commercially available, the quest for suitable broadly protective HS vaccines with long-lasting immunity is on the upsurge. Concurrently, attempts are being made to unravel the mysteries of the pathogen and its virulence factors, pathogenesis and determinants of protective immunity as well as diversity among strains ofP. multocida.This review highlights the advances in these various aspects of HS.

scholarly journals Continuing Mycobacterium bovis transmission from animals to humans in New Zealand

2006 ◽  
Vol 134 (5) ◽  
pp. 1068-1073 ◽  
Author(s):  
M. G. BAKER ◽  
L. D. LOPEZ ◽  
M. C. CANNON ◽  
G. W. DE LISLE ◽  
D. M. COLLINS
Keyword(s):  
New Zealand ◽  
Restriction Endonuclease ◽  
Mycobacterium Bovis ◽  
Restriction Endonuclease Analysis ◽  
Domestic Animals ◽  
Human Infection ◽  
Potential Contribution ◽  
Large Reservoir ◽  
Animal Reservoirs ◽  
Endonuclease Analysis

New Zealand has a large reservoir of Mycobacterium bovis infection in wild and farmed animals. This study aimed to assess the extent of human infection with this organism and the potential contribution of these animal sources. Combined epidemiological and laboratory investigation of human tuberculosis cases over the period 1995–2002 showed that M. bovis accounted for 2·7% (54/1997) of laboratory-confirmed human tuberculosis cases, a rate of 0·2/100000 population. M. bovis isolates from humans (23) were typed using restriction endonuclease analysis (REA) and compared with isolates from wild and domestic animals (2600). Fourteen (61%) of the human isolates had REA patterns that were identical to patterns for isolates from cattle, deer, possums, ferrets, pigs, and occasionally cats. These results suggest a low level of ongoing M. bovis transmission from animal reservoirs to humans in New Zealand.

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