Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 1989 we are continuing to move gene diagnosis over to the direct detection mode. We have sickle cell anemia, alpha-thalassemia, beta-thalassemia, Duchenne muscular dystrophy, Becker muscular dystrophy and cystic fibrosis moved to direct detection with hemophilia B and alpha-1-antitrypsin deficiency soon to be there. For indirect detection, we still have hemophilia A, and a comment on the genetics of hemophilia A is important. Remember that sickle cell anemia is caused by one mutation, while beta-thalassemia and cystic fibrosis have a finite number of alleles. Duchenne muscular dystrophy results from a different mutation for every affected individual, but most of these are deletions and can be directly detected. Hemophilia A is another X-linked disorder with almost every affected individual having a different mutation. That means that there probably are 100 ways to get beta-thalassemia and about 10,000 ways to get hemophilia A, so we need some really good novel techniques to detect these directly, and we are working hard on such techniques. I would not be surprised if hemophilia A moved into the direct detection category in the next year or so. We need to find the Huntington disease gene, and then it will move into the direct detection column. Neurofibromatosis is still in the indirect detection group but also may move very soon. Polycystic kidney disease is also still in the indirect detection column. This summarizes where prenatal and presymptomatic gene diagnosis stands in late 1989.
 ...
PMID:Current status of prenatal diagnosis by DNA analysis. 209 48

Using the recent developments of molecular biology techniques, our laboratory is offering carrier and prenatal diagnosis for a variety of genetic disorders including cystic fibrosis, phenylketonuria, thalassaemia alpha and beta, sickle cell anaemia, myotonic dystrophy, von Recklinghausen's disease, autosomal polycystic kidney disease, haemophilia A and B, Martin-Bell syndrome (fragile X), Becker and Duchenne muscular dystrophy, etc. It is likely that the rapid advances made in the establishment of the human genetic map will considerably expand the spectrum of diseases for which diagnosis by molecular genetics will become available.
 ...
PMID:[Molecular and diagnostic genetics]. 219 51

DNA polymorphisms associated with adult polycystic kidney disease and detected by restriction enzymes PvuII and RsaI were sought in 18 members of a Greek Cypriot family. The adult polycystic kidney disease (APKD) defect was shown to segregate with a specific 3'HVR PvuII DNA polymorphism and enabled exclusion of APKD in two children incorrectly diagnosed by ultrasound. An unusual problem of the DNA linkage approach in detection of APKD is illustrated. This occurred after coinheritance of alpha+ thalassaemia and APKD, which resulted in an altered band size for the (+) RsaI restriction fragment length polymorphism.
 ...
PMID:Alpha thalassaemia: a potential source of error in DNA linkage studies for adult polycystic kidney disease. 256 75

We describe the first known association between autosomal dominant polycystic kidney disease (ADPKD) and alpha-4.2 thalassemia in a Caucasian family. Linkage studies have been carried out using two probes (3'HVR and 24-1) linked to ADPKD on locus PKD1 and two probes (alpha 1-PstI and BamH-I/EcoRI-zeta 2 fragment) allowing detection of alpha-thalassemia with either a 3.7-kb deletion or a 4.2-kb deletion. Our results show that to avoid misinterpretation it is important to investigate the occurrence of an alpha-gene deletion when polymorphisms situated in the alpha-globin locus are used for linkage studies on ADPKD. The studied family is one of the rare cases of leftward deletional thalassemia described in a non-Asian population.
 ...
PMID:Autosomal dominant polycystic kidney disease and alpha -4.2 thalassemia in a Caucasian family. 276 79

The current state of molecular diagnosis of some common genetic diseases, including cystic fibrosis, Duchenne muscular dystrophy, haemophilia A and B, phenylketonuria, and thalassaemia, in Russia and elsewhere in the former USSR is reviewed. Data on carrier detection and prenatal diagnosis are presented and some objective problems and obstacles hampering efficient molecular diagnosis in Russia are discussed. The necessity for molecular diagnosis of some other inherited diseases (for example, von Willebrand's disease, Martin-Bell syndrome, polycystic kidney disease, Huntington's disease, and myotonic dystrophy) is stressed. The need for establishing new diagnostic centres dealing with the most common diseases, as well as rare genetic diseases, is substantiated. Perspectives on the implementation of new molecular methods and new technical approaches (preimplantation embryo diagnosis, fetal cells selected from maternal blood) are briefly outlined.
 ...
PMID:Molecular diagnosis of some common genetic diseases in Russia and the former USSR: present and future. 844 19

Over the past 28 years, 39 patients with Moyamoya disease or syndrome defined as spontaneous occlusion of the circle of Willis with extensive basal collateral vessels have been treated by the author in Canada and the USA. All patients presented with clinical or radiologic evidence of hemorrhage (23) or ischemia and infarction (16). A total of 12 patients had associated cerebral aneurysms and seven of these patients with aneurysms presented with subarachnoid hemorrhage. The patients ages ranged from 5 to 47 years. Of these 58% were female. The patients racial origin included North American Indian, Innuit, East Indian/Pakistani, Japanese, Chinese, Filipino, Korean, Malayasian, Hispanic, African American and Caucasian. Familial clustering was seen in North American Indian, Innuit and Caucasian patients. Associated disorders (tuberculosis, pharyngitis, thalassemia, fibromuscular hyperplasia, polycystic kidney, sickle cell trait and hypertension) were common in these patients, as was the use of tobacco, alcohol and in the adult females, oral contraceptives. It may be concluded from this series that the etiology of Moyamoya disease or syndrome is probably multifactorial, but that some racial and familial groups are more susceptible. Furthermore, in that the clinical and angiographic features are identical, the separation between Moyamoya disease and syndrome may not be helpful in understanding the etiology and pathophysiology of this disorder.
 ...
PMID:Risk factors of moyamoya disease in Canada and the USA. 940 4

GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activity of GTPases. We recently reported the identification of a new GDI for the Rho-related GTPases named RhoGDIgamma. This gene is now designated ARHGDIG by HUGO. Here, in a detailed analysis of tissue expression of ARHGDIG, we observe high levels in the entire brain, with regional variations. The mRNA is also present at high levels in kidney and pancreas and at moderate levels in spinal cord, stomach, and pituitary gland. In other tissues examined, the mRNA levels are very low (lung, trachea, small intestine, colon, placenta) or undetectable. RT-PCR analysis of total RNA isolated from exocrine pancreas and islets shows that the gene is expressed in both tissues. We also report the genomic structure of ARHGDIG. The gene spans over 4 kb and is organized into six exons and five introns. The upstream region lacks a canonical TATA box and contains several putative binding sites for ubiquitous and tissue-specific factors active in central nervous system development. Using FISH, we have mapped the gene to chromosome band 16p13.3. This band is rich in deletion mutants of genes involved in several human diseases, notably polycystic kidney disease, alpha-thalassemia, tuberous sclerosis, mental retardation, and cancer. The promoter structure and the chromosomal location of RhoGDIgamma suggest its importance and underscore the need for further investigation into its biology.
 ...
PMID:Human ARHGDIG, a GDP-dissociation inhibitor for Rho proteins: genomic structure, sequence, expression analysis, and mapping to chromosome 16p13.3. 978 82

We report on a familial submicroscopic translocation involving chromosomes 8 and 16. The proband of the family had a clinical picture suggestive of a large deletion in the chromosome 16p13.3 area, as he was affected with tuberous sclerosis complex (TSC) and had alpha thalassaemia trait, and his half brother, who also had TSC, may have suffered additionally from polycystic kidney disease (PKD). FISH studies provided evidence for a familial translocation t(8;16)(q24.3;p13.3) with an unbalanced form in the proband and a balanced form in the father and in a paternal aunt. The unbalanced translocation caused the index patient to be deleted for the chromosome 16p13.3-pter region, with the most proximal breakpoint described to date for terminal 16p deletions. In addition, FISH analysis showed a duplication for the distal 8q region. Since the index patient also had hypomelanosis of Ito (HI), either of the chromosomal areas involved in the translocation may be a candidate region for an HI determining gene. Furthermore, it is noteworthy that both carriers of the balanced translocation showed a nodular goitre, while the proband has hypothyroidism.
 ...
PMID:An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito. 1074 47

We have sequenced 1949 kb from the terminal Giemsa light band of human chromosome 16p, enabling us to fully annotate the region extending from the telomeric repeats to the previously published tuberous sclerosis disease 2 (TSC2) and polycystic kidney disease 1 (PKD1) genes. This region can be subdivided into two GC-rich, Alu-rich domains and one GC-rich, Alu-poor domain. The entire region is extremely gene rich, containing 100 confirmed genes and 20 predicted genes. Many of the genes encode widely expressed proteins orchestrating basic cellular processes (e.g. DNA recombination, repair, transcription, RNA processing, signal transduction, intracellular signalling and mRNA translation). Others, such as the alpha globin genes (HBA1 and HBA2), PDIP and BAIAP3, are specialized tissue-restricted genes. Some of the genes have been previously implicated in the pathophysiology of important human genetic diseases (e.g. asthma, cataracts and the ATR-16 syndrome). Others are known disease genes for alpha thalassaemia, adult polycystic kidney disease and tuberous sclerosis. There is also linkage evidence for bipolar affective disorder, epilepsy and autism in this region. Sixty-three chromosomal deletions reported here and elsewhere allow us to interpret the results of removing progressively larger numbers of genes from this well defined human telomeric region.
 ...
PMID:Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. 1115 97

After a previous paper discussing the possible association between beta-thalassemias and bipolar disorder, this article considers a possible association between alpha-thalassemia and the bipolar disorder. We report the case of a 36 year old woman with bipolar disorder and alpha-thalassemia. The patient, native of Reunion Island, has a family history of bipolar disorder (both parents, one brother, and a paternal uncle). The severity of the bipolar disorder type I in her family, is illustrated by the suicides of both parents, one brother and the paternal uncle, in intervals of only a few years. After a Medline review (1980-2004) we found only two studies suggesting a possible relationship between bipolar disorders and alpha-thalassemias, but without clinical case report information. Some genetic studies described the existence of possible genetic susceptibility for bipolar disorder on the short arm of chromosome 16, close to the gene involved in certain alpha-thalassemias, on the region 16p13.3. An interesting finding is that the sequencing of 258 kb of the chromosome region 16p13.3 not only allowed the identification of genes involved in the alpha-thalassemia and in the vulnerability to bipolar disorders, but also the identification of genes implicated in tuberous sclerosis, in polycystic kidney disease, in cataract with microophtalmia, and in vulnerability genetic factors for ATR-16 syndrome, asthma, epilepsy, certain forms of autism and mental retardation. Numerous clinical descriptions and some familial studies on linkage suggested a possible relationship between tuberous sclerosis, polycystic kidney disease, cataract with microophtalmia, ATR-16 syndrome, asthma, epilepsy, certain forms of autism, mental retardation and bipolar disorder, given the closeness of these vulnerability genes on the short arm of the chromosome 16. A vulnerability gene of alcohol dependence was also identified on this same chromosome region (16p13.3), by a study concerning 105 families. Taking into account the methodological difficulties due to the clinical and genetic heterogeneity of bipolar disorder, we suggest that linkage techniques should be used to confirm the presence of susceptibility genetic factor for bipolar disorders on chromosome 16. Thus a known genetic disease (alpha-thalassemia) could contribute to confirming the presence on the short arm of chromosome 16 of a susceptibility genetic factor for bipolar disorders. Linkage studies should be performed in families with a strong association for both diseases. Thanks to linkage techniques, one could hope for an improvement in understanding the physiopathology of bipolar disorder, with possible implications at a therapeutic level.
 ...
PMID:[Alpha-thalassemias and bipolar disorders: a genetic link?]. 1597 42


1 2 Next >>