CONTIGUOUS GENE SYNDROMES DUE TO DELETIONS IN THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME
CONTIGUOUS GENE SYNDROMES DUE TO DELETIONS IN THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME
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DOI：
10.1073/pnas.86.24.10001
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发表时间：
1989-12-01
影响因子：
11.1
通讯作者：
CAMERINO, G
中科院分区：
文献类型：
--
作者：
BALLABIO, A;BARDONI, B;CAMERINO, G
由于染色体上相邻基因的缺失而导致的孟德尔遗传性疾病被描述为“邻接基因综合征”。“在27例X染色体远端短臂间质和末端缺失的患者中，发现身材矮小、点状软骨发育不良、智力迟钝、类固醇硫酸酯酶缺乏和卡尔曼综合征是孤立的或以各种组合形式存在。使用的cDNA和基因组探针从Xp 22-pter区域使我们能够确定12个不同的缺失间隔，并确认，并进一步完善，染色体分配的X连锁隐性点状软骨发育不良和卡尔曼综合征基因。一个假定的假常染色体基因影响身高和X连锁的非特异性精神发育迟滞基因已被暂时分配到特定的时间间隔。所描述的缺失面板是用于映射新序列和在该区域中定向染色体行走的有用工具。
Mendelian inherited disorders due to deletions of adjacent genes on a chromosome have been described as "contiguous gene syndromes." Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome. The use of cDNA and genomic probes from the Xp22-pter region allowed us to identify 12 different deletion intervals and to confirm, and further refine, the chromosomal assignment of X-linked recessive chondrodysplasia punctata and Kallmann syndrome genes. A putative pseudoautosomal gene affecting height and and X-linked nonspecific mental retardation gene have been tentatively assigned to specific intervals. The deletion panel described is a useful tool for mapping new sequences and orienting chromosome walks in the region.