目的:报导— Van der Hoeve综合征家系并进行听力学检测。方法:对家系进行纯音测听、摄全身骨骼X线片,采集外周静脉血进行基因连锁分析。结果:家系4代24人,听力下降4例7耳,其中传导性聋3例5耳,混合性聋1例2耳。听力下降发生年龄最小5岁...
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目的:报导— Van der Hoeve综合征家系并进行听力学检测。方法:对家系进行纯音测听、摄全身骨骼X线片,采集外周静脉血进行基因连锁分析。结果:家系4代24人,听力下降4例7耳,其中传导性聋3例5耳,混合性聋1例2耳。听力下降发生年龄最小5岁,随年龄增加,骨导听力逐渐下降,听力损失加重,出现混合性聋。其中有蓝色巩膜、骨折、传导性聋3人,蓝色巩膜、传导性聋3人,仅有蓝色巩膜1人。骨折幼年发病,多发生在四肢管状骨及锁骨,1例后遗畸形。结论:家系疾病连续多代遗传,符合单基因常染色体显性遗传,且外显率较高,属综合征性遗传性聋。
Objective To further define the extent of chromosome 9p21 deletion in periampullary *** The loss of heterozygosity at 5 microsatellite polymorphic markers on chromosome 9p21 was detected by polymerase chain reaction...
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Objective To further define the extent of chromosome 9p21 deletion in periampullary *** The loss of heterozygosity at 5 microsatellite polymorphic markers on chromosome 9p21 was detected by polymerase chain reaction (PCR), polyacrylamide gel electrophoresis (PAGE) and silver staining in 35 specimens of periampullary neoplasms and their matching blood *** Fifty percent (4/8) of pancreatic cancer cases showed the loss of heterozygosity at one or more microsatellite loci, with the more frequent sites of D9S974 (37.5%) and D9S942 (28.6%), and some showing consecutive allelic loss. Sixty-two point five percent (5/8) of ampullary carcinoma cases showed loss of heterozygosity at one or more of the loci, frequent site of loss being D9S942 (42.9%) and the next most frequent being IFNA (37.5%) and D9S171 (37.5%). Loss of one locus was observed in 14.2% (1/7) of insulinoma. Conclusion The minimal common region of chromosome deletion in periampullary neoplasms is defined between the D9S974 and D9S942 loci within a 15?kb interval in 9p21, suggesting the involvement of a novel tumor suppressor gene in their carcinogenesis.
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