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Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3 总被引:16,自引:0,他引:16
L M Brzustowicz T Lehner L H Castilla G K Penchaszadeh K C Wilhelmsen R Daniels K E Davies M Leppert F Ziter D Wood 《Nature》1990,344(6266):540-541
SPINAL muscular atrophy (SMA) describes a group of heritable degenerative diseases that selectively affect the alpha-motor neuron. Childhood-onset SMAs rank second in frequency to cystic fibrosis among autosomal recessive disorders, and are the leading cause of heritable infant mortality. Predictions that genetic heterogeneity underlies the differences between types of SMA, together with the aggressive nature of the most-severe infantile form, make linkage analysis of SMA potentially complex. We have now analysed 13 clinically heterogeneous SMA families. We find that 'chronic' childhood-onset SMA (including intermediate SMA or SMA type II, and Kugelberg-Welander or SMA type III) is genetically homogeneous, mapping to chromosomal region 5q11.2-13.3. 相似文献
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T C Gilliam L M Brzustowicz L H Castilla T Lehner G K Penchaszadeh R J Daniels B C Byth J Knowles J E Hislop Y Shapira 《Nature》1990,345(6278):823-825
The childhood-onset spinal muscular atrophies (SMAs) describe a heterogeneous group of disorders that selectively affect the alpha motoneuron. We have shown that chronic childhood-onset SMA (SMA II and III) maps to a single locus on chromosome 5q. Acute SMA (SMA Type I/Werdnig-Hoffmann/severe/infantile) is the main cause of heritable infant mortality. Mapping the acute SMA locus by conventional methods is complicated by the rapidly fatal course of the disease and its recessive mode of inheritance. We present here the typing of four inbred acute-SMA families with DNA markers on chromosome 5q and analysis of these together with acute families from our previous study to demonstrate genetic homogeneity between the acute and chronic forms of SMA. The data indicate that the acute SMA locus maps to chromosome 5q11.2-13.3. Two families seem unlinked to 5q markers, raising the possibility of genetic heterogeneity or disease misclassification within the acute and chronic family sets. 相似文献
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Recent advances in the genetics of schizophrenia 总被引:13,自引:0,他引:13
Waterwort DM Bassett AS Brzustowicz LM 《Cellular and molecular life sciences : CMLS》2002,59(2):331-348
The genetic etiology of schizophrenia, a common and debilitating psychiatric disorder, is supported by a wealth of data.
Review of the current findings suggests that considerable progress has been made in recent years, with a number of chromosomal
regions consistently implicated by linkage analysis. Three groups have shown linkage to 1q21-22 using similar models, with
HLOD scores of 6.5, 3.2, and 2.4. Other replicated loci include 13q32 that has been implicated by two independent groups with
significant HLOD scores (4.42) or NPL values (4.18), and 5p14.1-13.1, 5q21-33, 8p21-22, and 10p11-15, each of which have been
reported as suggestive by at least three separate groups. Different studies have also replicated evidence for a modest number
of candidate genes that were not ascertained through linkage. Of these, the greatest support exists for the DRD3 (3q13.3),
HTR2A (13q14.2), and CHRNA7 (15q13-q14) genes. The refinement of phenotypes, the use of endophenotypes, reduction of heterogeneity,
and extensive genetic mapping have all contributed to this progress. The rapid expansion of information from the human genome
project will likely further accelerate this progress and assist in the discovery of susceptibility genes for schizophrenia.
A greater understanding of disease mechanisms and the application of pharmacogenetics should also lead to improvements in
therapeutic interventions.
Received 11 May 2001; received after revision: 20 July 2001; accepted 18 September 2001 相似文献
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