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Query: UMLS:C0684275 (haemophilia)
 10,958 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Current state of molecular diagnosis of hereditary diseases most common in the former USSR such as cystic fibrosis, Duchenne muscular dystrophy, haemophilia A and B as well as phenylketonuria is reviewed. Basic results of prenatal diagnosis and carrier detection of the above mentioned diseases in St.-Petersbourg and somewhere else in Russia are presented. The urgent necessity to start an efficient molecular diagnosis of some other widespread hereditary diseases (von Willebrand's disease, Martin-Bell syndrome, polycystic kidney. Huntington chorea, myotonic dystrophy, etc.) is emphasized. Creation of new diagnostic centers dealing with most common diseases as well as complementing each other as to molecular diagnosis of more rare hereditary diseases is substantiated. Prospects of implementation of new molecular methods and novel technical approaches (preimplantation embryos, fetal cells selected from maternal blood) for more efficient diagnosis of hereditary diseases are briefly outlined.
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PMID:[Successes and prospects of molecular diagnosis of the most widespread inherited diseases]. 144 Sep 21

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.
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PMID:[Molecular and diagnostic genetics]. 219 51

This paper describes a rapid and highly sensitive method for determination of fetal sex. Y-chromosome-specific sequences as well as Alu-specific sequences were amplified with polymerase chain reaction (PCR). Then fetal sex was determined by comparison of the two amplified DNA sequences. Polymerase chain reaction can be performed on lysed amniotic fluid cells or chorionic villus samples or dried blood spots on filter paper blot without prior DNA extraction. The analysis of the amplified DNA was performed immediately by agarose gel electrophoresis without DNA hybridization with radioactive probe. By using this method, determination of sex was performed on 3 fetuses at risk for DMD, and on 2 fetuses at risk for hemophilia, prenatal detection was confirmed by examination of the neonates.
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PMID:[Determination of fetal sex by amplification of Y-chromosome-specific DNA]. 262 Feb 73

The erythrocyte enzyme-systems acid phosphatase, phosphoglucomutase, glutamate pyruvate transaminase, adenosine desaminase, adenylate kinase, glyoxase, glucose-6-phosphate dehydrogenase and esterase-D-isoenzyme phenotypes were studied for their percentile distribution and were compared with their incidence in the diseases with X-linked recessive heredity, Duchenne muscular dystrophy (DMD) and haemophilia-A, in hemizygous male children and heterozygous mothers. Considering the frequency distribution of the above mentioned isoenzyme phenotypes of the enzyme-systems in DMD, the phenotypes proved to be homogeneous, only the X transmitted 6-phosphogluconate dehydrogenase (6-PGD) isoenzyme types were found to be genetic markers in DMD hemizygotes and heterozygotes. In these genotypes the 6-PGD A phenotype showed a decrease while the phenotypes 6-PGD AB and B were significantly increased. The adenylate kinase (AK) 2-1 isoenzyme phenotype was increased to 25% against the population frequency of 6.34%, while the AK 1-1 phenotype occurred in 75% against its population frequency of 93.59%, showing a significantly decreasing tendency in haemophilia-A hemizygotes and heterozygotes.
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PMID:Erythrocyte enzyme allotypes in the X-linked recessive disorders, Duchenne muscular dystrophy and haemophilia-A hemizygotes and heterozygotes. 293 Oct 91

165 prenatal cytogenetic analyses are reported. The culture and Giemsa or quinacrine mustard (QM) staining processes are described. Karyotypes from both Giemsa and QM metaphases were analyzed. The main indications for amniocentesis were: 1)previous child with Down's syndrome (65), 2)advanced maternal age (74), 3)D/G carrier (5), 4)Duchenne muscular dystrophy (5) or 6)previous indication of other chromosomal anomaly. In the advanced maternal age group, 4 G21 and 1 E18 trisomy fetuses were detected. No chromosomal abnormalities were seen in the group referred for a previous child with Down's syndrome, although one woman was found to have a 9/13 translocation herself. Another woman with 13/14 translocation gave birth to a healthy boy with a 13/14 translocation, as predicted. Of 5 women referred for D/G translocation carriers, 1 had a fetus with a 46, X,Y,-D + t(DqGq) karyotype. Sex determination for X-linked anomalies resulted in detection of 2 Duchenne's muscular dystrophy, 1 hemophilia, 1 Norrie's syndrome, and 1 Pelizaeus-Merzbacher's syndrome.
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PMID:Prenatal cytogenetic analysis of women with high risk for genetic disorders. 427 31

Seven patients with neuromuscular disorders were examined, including one with cerebral palsy, one with Duchenne muscular dystrophy, two with paraplegia, and three with poliomyelitis; all exhibited skeletal changes mimicking those found in juvenile rheumatoid arthritis and hemophilia. These findings included apparent overgrowth of the epiphyses, periarticular osteoporosis, and joint-space narrowing in seven subjects; accentuation of the trabecular pattern in six; gracile bones and soft-tissue wasting in five; tibiotalar slant in two; and premature epiphyseal closure in one. Changes in osseous vascular dynamics and the debilitation or immobilization found both in patients with neuromuscular disorders and those with arthritis may help explain these overlapping findings. While the clinical distinction between the neuromuscular and arthritic disorders is straightforward, the similarity in radiographic appearance has received little attention. If the clinical history is inadequate, this may result in confusion or misinterpretation by the radiologist. In the absence of more specific findings, such as articular erosions or erosions of the femoral intercondylar notch, the differential diagnosis may be mistakenly limited to juvenile rheumatoid arthritis and hemophilia. In such cases, the neuromuscular disorders should also be considered in the differential diagnosis.
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PMID:Skeletal changes in neuromuscular disorders mimicking juvenile rheumatoid arthritis and hemophilia. 633 2

Sherman et al. (1984) concluded from a cytogenetic and genetic analysis of families with the marker (X) syndrome that the rate of the mutation leading to this syndrome is extraordinarily high (7.2 X 10(-4) in male germ cells), and that these mutations occur exclusively in male germ cells. It is shown by some model calculations that the empirical evidence can be reconciled with more conventional assumptions on the mutation rate if a moderately increased fertility of clinically unaffected female and possibly male carriers in the past is assumed. Indirect evidence for such an increased fertility can be derived from old reports on higher reproduction of slightly subnormal individuals. On the other hand, complete compensation of gene loss in affected individuals by higher fertility of unaffected carriers appears to be rather unlikely. At present, a moderately high mutation rate--as found, for example, in Duchenne muscular dystrophy or haemophilia A--in combination with a moderately increased fertility of clinically unaffected carriers is the most likely alternative.
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PMID:Mutation and selection in the marker (X) syndrome. A hypothesis. 649 50

The fragile X-mental retardation syndrome is defined by a moderate to severe mental retardation associated with a cytogenetic marker, a fragile site localized on the long arm of the X chromosome at band Xq 27. This syndrome has recently been recognized as one of the major causes of genetically determined mental retardation, and as one of the most important X-linked diseases with respect to its frequency (analogous to that of Duchenne muscular dystrophy or of haemophilia A) and severity. In the absence of treatment, genetic screening for this disease would seem particularly important. Prenatal diagnosis is now feasible although difficult and detection of heterozygous carriers is only possible in approximately 50% of cases. The recent demonstration of genetic linkage between the glucose 6-phosphate dehydrogenase (G6PD)-colour blindness cluster (at Xq28) and the fragile X locus has suggested that the fragile site is indeed the site of the mutation. We show here that the fragile X and haemophilia B loci are closely linked, using as genetic marker a polymorphism of the coagulation factor IX gene. Our study of a large family has demonstrated transmission through a phenotypically normal male, a feature previously described in retrospective analysis of a few other fragile X pedigrees. Restriction polymorphisms associated with the factor IX gene should be useful for analysing this peculiar aspect of the genetics of the fragile X syndrome, and for genetic screening of the disease.
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PMID:Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male. 668 1

The effect of parental age on mutation rates at the Duchenne Muscular Dystrophy (DMD) locus was studied in 514 male probands who constitute two thirds of the known patients in Japan. We were unable to detect an effect of maternal age at birth of proband or maternal grandfather's age at birth of the mother of the proband on the rate of DMD mutations. The result supports an observation on the hemophilia gene.
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PMID:The effect of parental age on rate of mutation for Duchenne Muscular dystrophy. 713 25

We present the results of a study of the rate and origin of mutations in Duchenne muscular dystrophy (DMD). Depending on the type of mutation (deletion/duplication or point mutation) present in the patient, there are widely varying ratios of male to female mutation rates. In deletions, the male mutation rate is only 30% of the female one. In non-deletional/non-duplicational mutations (presumably containing a high proportion of point mutations) the male mutation rate is at least 2.2 as high as the female one and probably much higher. Allowing for the presence of autosomal recessive phenocopies we find that k in non-deletional/non-duplicational mutations is 40.3. These findings mean that the vast majority of deletions arise in oogenesis, while most point mutations stem from spermatogenesis. Previous investigations have shown that in other diseases and genes, most notably haemophilia B and A, but also the ZFY and ZFX genes, the male mutation rate for point mutations tends to be higher than the female one. Our results can be seen as a confirmation of this for the special case of DMD. The influence on risk figures is considerable. As an example, the risk of the mother of an isolated case of DMD without an apparent structural anomaly of the gene of being a carrier increases from 67% to at least 76%. Given the estimate of 40.3 for k, allowing for the presence of autosomal recessive phenocopies mentioned above, it increases even further to 98%. However, as confidence intervals are still large, more data are needed to improve the estimates. Germinal mosaicism in this context is discussed.
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PMID:On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis. 801 64


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