A GENETIC-ANALYSIS OF RETINITIS PIGMENTOSA
A GENETIC-ANALYSIS OF RETINITIS PIGMENTOSA
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DOI：
10.1136/bjo.67.7.449
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发表时间：
1983-01-01
影响因子：
4.1
通讯作者：
FISHMAN, GA
中科院分区：
文献类型：
--
作者：
BOUGHMAN, JA;FISHMAN, GA
对457例视网膜色素变性（RP）患者进行遗传分析，包括根据公认的孟德尔遗传模式对家系进行分类，并对所有有信息的同胞进行正式分离分析。在368名先证者中，有18%（68人）患有明显的先天性听力损失，并被诊断为Usher综合征。RP先证者被分类为：21.7%常染色体显性，9.0% X连锁，16.0%常染色体隐性，3.3%遗传类型不确定，50.0%单纯。分离分析反映了这种高比例的单纯病例，占优势家庭的发病率降低;只有20%仍然被归类为散发性（可能非遗传性）。在正常人之间的交配中，分离比的估计值也表明低于预期值。与RP同胞不同，Usher综合征的分离符合隐性遗传的假设。RP与显着的听力损失分离的预期，而即使先证者被归类为显性或隐性的RP表型的复发风险可能低于孟德尔的期望。
Genetic analysis of 457 patients with retina pigmentosa (RP) included categorization of families by recognized mendelian pattern of inheritance and formal segregation analysis of all informative sibships. Of the 368 probands a surprisingly high 18% (68) had significant congenital loss of hearing and were diagnosed as having Usher syndrome. The RP probands were categorized as: 21.7% autosomal dominant, 9.0% X-linked, 16.0% autosomal recessive, 3.3% genetic type uncertain, and 50.0% simplex. Segregation analysis reflected this high proportion of simplex cases, accounting for reduced penetrance in dominant families; only 20% remain classified as sporadic (possibly nongenetic). In the matings between normal persons estimates of the segregation ratio also indicate lower values than expected. Unlike in RP sibships, segregation in the Usher syndrome was consistent with the hypothesis of recessive inheritance. RP with significant hearing loss segregated as expected, while even if a proband was classified as a dominant or recessive the recurrence risk for the RP phenotype may be below mendelian expectation.