Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients.
Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients.
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Prader-Willi 综合征的分子研究：50 名患者的缺失、RFLP 和表型分析。
DOI：
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发表时间：
1991
期刊：
影响因子：
--
通讯作者：
N. Niikawa
中科院分区：
文献类型：
--
作者：
J. Hamabe;Y. Fukushima;N. Harada;K. Abe;N. Matsuo;T. Nagai;A. Yoshioka;H. Tonoki;R. Tsukino;N. Niikawa
Deletion and RFLP studies with 5 cloned DNA markers localized at 15q11.2 were performed in 50 patients with the Prader-Willi syndrome (PWS). A one-copy density (deletion) for at least one of 4 loci, D15S9, D15S11, D15S10, D15S12, was detected in 32 (64%) of the 50 patients; deletions of each of the 4 loci were found in 29, 30, 29, and 28 patients, respectively. Three patients showed 4 or more copy density for D15S12 locus, in addition to deletions. The remaining 18 patients showed two-copy densities for each of the 4 loci. A common site of rearrangements among our 32 patients as well as the reported patients seemed to be confined to a segment between D15S9 and D15S11, suggesting the putative PWS gene locus in this segment. Of 6 patients who have cytologic deletions but did not show any molecular deletions, 3 have normal size of hands and feet, and 4 have normally pigmented skin and hair. The normal pigmentation was also observed in 3 patients who had small molecular deletions in the examined 5-locus segment. These observations may support the conception of contiguous gene syndrome. RFLP analysis demonstrated maternal uniparental isodisomy of chromosomes 15 in both a patient with 45,t(15q;15q) and a karyotypically normal patient. Based on the results of the present study, a new model is proposed to explain the occurrence of PWS with a variety of chromosome abnormalities, including partial monosomy, disomy, trisomy, and/or tetrasomy for 15q11.2. The normal development may require an even or more "number ratio" of paternally derived allele(s) to maternally derived allele(s) of the gene(s) localized at 15q11.2, and a disturbance of the ratio would lead to the PWS phenotype.
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影响因子：
9.8
作者：
M. Butler
通讯作者：
M. Butler
影响因子：
9.8
作者：
Diane M. Tasset;J. Hartz;Fa-Ten;Kao
通讯作者：
Diane M. Tasset;J. Hartz;Fa-Ten;Kao
DOI：
10.1002/ajmg.1320330109
发表时间：
1989-05
期刊：
American journal of medical genetics
影响因子：
--
作者：
R. Nicholls;J. Knoll;K. Glatt;J. Hersh;Thomas D. Brewster;J. Graham;D. Wurster‐Hill;R. Wharton;S. Latt
通讯作者：
R. Nicholls;J. Knoll;K. Glatt;J. Hersh;Thomas D. Brewster;J. Graham;D. Wurster‐Hill;R. Wharton;S. Latt
DOI：
10.1002/ajmg.1320230307
发表时间：
1986-03-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
BUTLER, MG;MEANEY, FJ;PALMER, CG
通讯作者：
PALMER, CG
普瑞德-威利综合征中的色素沉着不足。
影响因子：
9.8
作者：
Wiesner,GL;Bendel,CM;Olds,DP;White,JG;Arthur,DC;Ball,DW;King,RA
通讯作者：
King,RA