湖北土家族先天性遗传性皮肤病流行病学调查分析

本文采用整群随机抽样方法，对湖北省巴东县两个区共５３２０２人进行先天性遗传性皮肤病流行病学调查研究，共检出病种１２种，患者１０２人，总患病率为１．９２‰。男性患病率为２．２８‰，女性患病率为１．５２‰，男女患病率差异有显著性（Ｐ＜０．０５）。疾病的遗传方式包括常染色体显性、常染色体隐性遗传和Ｘ连锁隐性遗传等。     

类粘蛋白遗传多态性在南京地区汉族人群中的分布

目的探讨中国南京地区汉族人群血清类粘蛋白（ｏｒｏｓｏｍｕｃｏｉｄ，ＯＲＭ）的遗传多态性，为研究弱碱性药物血浆蛋白结合率的个体差异提供背景资料。方法采用超薄层聚丙烯酰胺凝胶等电聚焦电泳、免疫印迹技术，对２２０名无血缘关系个体去唾液酸的血清ＯＲＭ表现型进行了研究，并获取其基因频率数据。结果ＯＲＭ１座位的３个复等位基因（ＯＲＭ１＊Ｆ１、ＯＲＭ１＊Ｆ２和ＯＲＭ１＊Ｓ）控制着ＯＲＭ１的５种表现型，其中ＯＲＭ１Ｆ１占４７．２７％，ＯＲＭ１Ｓ占５．４６％，ＯＲＭ１Ｆ１Ｆ２占３．１８％，ＯＲＭ１Ｆ１Ｓ占４３．６４％，ＯＲＭ１Ｆ２Ｓ占０．４５％。据此求得基因频率ＯＲＭ１＊Ｆ１为０．７０６８，ＯＲＭ１＊Ｆ２为０．０１８２，ＯＲＭ１＊Ｓ为０．２７５０。该座位多态分布符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡定律。全部检出了由ＯＲＭ２＊Ａ基因控制的ＯＲＭ２Ａ型。结论南京地区汉族人群ＯＲＭ１座位具有遗传多态性，而ＯＲＭ２座位不具遗传多态性。     

特发性癫痫遗传方式的研究

目的为了探讨特发性癫痫（ＩＥＰ）的遗传方式。方法采用家系分析、多基因分析和分离分析的方法，对山东省遗传病群体调查中发现的２１０个ＩＥＰ家系进行了研究。结果ＩＥＰ不符合多基因遗传，而主要为常染色体隐体遗传。分离分析结果显示，Ｕ×Ｕ多发家庭组和Ｕ×Ａ家庭组可以接受常染色体隐性遗传的假设；部分Ｕ×Ｕ组的家庭可以接受常染色体隐性遗传的假设，但是大多数Ｕ×Ｕ组的家庭为散发病例，散发病例比例为７８．５％。结论散发病例和Ｕ×Ｕ（ｆ）家庭组可能存在遗传异质性，其原因有待进一步的研究。     

X－连锁智力低下

Ｘ－连锁智力低下山东医科大学附属医院围产医学中心（２５００１２）王济周Ｘ－连锁智力低下（ＸＬＭＲ）在小儿智力低下（ＭＲ）中占２５％～５０％，男性多见，在男性中发病率为０．１８３％，女性携带者率为０．２４４％，Ｘ－连锁位点的畸变率在３～９×１０－５。据...     

病理性近视眼的遗传流行病学研究

目的 对上海市眼耳鼻喉科医院病理性近视眼患者６２个家系的遗传方式进行研究,探讨可能的遗传模式。方法 用ＳＥＧＲＡＮＢ软件进行简单分离分析,计算确认概率π,并在此基础上计算分离比ｐ和散发概率ｘ,用ＳＡＧＥ－ＲＥＧＤ软件进行复合分离分析,探讨可能的遗传模式和致病基因概率。结果 婚配类型为Ｎ＊Ｎ的家系表现为常染色体隐性遗传,Ａ＊Ｎ婚配类型则可能为隐性遗传模式（不能排除显性遗传模式）,两种婚配类型中均在一     

Y连锁遗传的视网膜色素变性一家系

Ｙ连锁遗传的视网膜色素变性一家系夏洪喜，赵国镛视网膜色素变性（ｒｅｔｉｎｉｔｉｓｐｉｇｍｅｎｔｏｓａ）是眼科常见的单基因遗传病［１］，其遗传方式已证实有常染色体隐性、常染色体显性及Ｘ连锁隐性遗传［２，３］。我们于１９８７年发现了一家族４代２１人，其中...     

DNA连锁分析预测MEN2A基因携带者可早期全甲状腺切除术

ＤＮＡ连锁分析预测ＭＥＮ２Ａ基因携带者可早期全甲状腺切除术［英］／Ｓｈｉｍｏ－１ａｋｅＴ…／／ＪＰｅｄｉａｔｒＳｕｒｇ．－１９９２，２７（４）．－４４４～４４６多发性内分泌瘤ＺＡ型（ＭＥＮＺＡ）是一种常染色体显性遗传综合征，其特点为甲状腺髓样癌（ＭＴ...     

精神发育迟滞群体中X连锁型的构成

对群体调查收集到的３８１个非特异性精神发育迟滞（ＭＲ）家庭进行了性别构成分析和分离分析，结果表明男性患者远多于女性患者，尤以中度ＭＲ组明显，分离分析也揭示在中度ＭＲ组男性患者的分离比最高。假定超出的男性患者由Ｘ连锁基因引起，估算出Ｘ连锁型ＭＲ在总体ＭＲ中占２５％，占中度ＭＲ的３０％。就Ｘ连锁基因在ＭＲ发病中的作用进行了讨论。     

N—乙酰化转移酶基因多态与肝癌遗传易感性的研究

为探讨Ｎ－乙酰化转移酶（ＮＡＴ）基因多态与肝癌遗传易感性的关系，应用ＰＣＲ、ＡＳＰＣＲ和ＲＦＬＰ，对６５例肝癌患者和１０６例健康对照进行了研究。结果表明，病例组慢型基因频率为７０．７７％，对照组为５２．８３％，两者差异显著（Ｐ＝０．００１）。ＯＲ值为２．１６，ＥＦ值为０．３８０１。提示携带慢型基因者患肝癌的危险性增加１．１６倍，由慢型基因所致的肝癌病例占人群中全部肝癌病例的３８．０１％。病例组基因型Ｆ１／Ｆ１、Ｆ１／Ｓ和Ｓ／Ｓ的频率分别为９．２３％、４０．００％和５０．７７％，对照组则分别为２２．６４％、４９．０６％和２８．３０％，两者差异显著（Ｐ＝０．００５６）。ＯＲ值分别为１．００、２．００和４．４０，存在剂量反应关系。发现４个新的慢型基因亚型，其点突变组合为３４１／５９０、５９０／８０３、２８２／３４１／５９０、２８２／３４１，将其暂命名为Ｓ９，Ｓ１０，Ｓ１１和Ｓ１２。     

家族性自发性气胸

本文分析我院１９８０－１９９０年共收治的自发性气胸１４３例，其中发现Ａ（李家），Ｂ（刘家），Ｃ（马家）三家系１２例病人罹患此病。认为本病具有家族聚集现象。通过家系调查和系谱分析指示家族性自发性气胸的遗传方式属于常染色体显性遗传、常染色体隐性遗传和Ｘ连锁遗传。     

Problems in diagnosis and delineation of inherited disorders in highly inbred populations

Two families were chosen as examples of the problems that may arise in the identification of inherited disorders in populations in which the rate of consanguineous marriages is high. In the first family, mentally retarded children of both sexes were born to 4 sisters married to close relative, and the possibility of an autosomal recessive disease was raised. The diagnosis of an X-linked disease, Martin Bell Syndrome, was made after the results of the chromosome analysis were at hand. In inbred communities, individuals affected with X-linked diseases are often born to parents who are related. In the second family two different autosomal recessive disorders were diagnosed among the children of a couple originating from a very inbred community. One of the children was affected with both disorders. The finding of two sibs with different symptoms may suggest that they have the same syndrome, and the differences in manifestations represent variability. The possibility that there may be more than one common abnormal gene in very inbred communities must be kept in mind, in particular when one is dealing with syndromes in which the diagnosis is based on clinical symptoms only. Another problem is that when the child has a complex unknown syndrome, the possibility that the child is affected simultaneously with 2 different genetic disorders should be raised.     

Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: Report of a brother and sister from Turkey

Congenital cutis laxa with ligamentous laxity and delayed development has recently been defined as a distinct entity of autosomal recessive inheritance. Here we report on 2 new cases of this syndrome. With severe manifestations in the male, X-linked dominant inheritance is discussed. Results of ultrastructural studies of skin and biochemical studies are reported.     

Aarskog syndrome in a brazilian boy born to consanguineous parents

We report on a Brazilian boy (F = 1/16) born to consanguineous parents and presenting with typical Aarskog syndrome. Genetic aspects and phenotypic manifestations of this patient are compared with those of the (X-linked) Aarskog syndrome and with the autosomal recessive faciodigitogenital syndrome. © 1992 Wiley-Liss, Inc.     

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X-linked recessive mode of inheritance. Compared with the other modes of inheritance, the inherited clinical features here include earlier onset (at birth) and a more severe progressive course.     

Biliary malformation with renal tubular insufficiency in two male infants: third family report

We report two male sibs, born to non-consanguineous healthy parents, who showed arthrogryposis, cholestatic jaundice and tubular renal insufficiency. The liver biopsy of the first case showed scanty hypoplastic biliary ducts. This association, first reported by Lutz and Richner in 1973, is a distinct syndrome, characterized by intra-extrahepatic biliary hypoplasia, and described in McKusick's catalogue under the number 210550. All reported cases were males and consanguinity was found in two families. For these reasons, the possibility of an autosomal recessive or of an X-linked transmission should be considered. A similar association, in reports by Nezelof, Di Rocco, and Saraiva, without intra-extrahepatic atresia but with a cholestatic pigmentary liver disease was considered as another condition (no. 301820) by McKusick in 1992.     

Genetic and segregation analysis of congenital cataract in the Indian population

Congenital cataract is a major cause of blindness in children, and there is wide variation in the few reports available on the frequencies of its different inheritance patterns. Two hundred and fifty-two families with congenital cataract belonging to 13 different states of India, were clinically and genetically investigated to study their inheritance and segregation patterns. Twenty-one percent of the cases were autosomal recessive, 15% autosomal dominant, 63% were simplex cases, and in the remaining cases the inheritance pattern was not clear. A high incidence of consanguinity (50.9%) was observed in autosomal recessive cases. Out of 340 affected individuals, 222 (65.3%) were males and 118 (34.7%) were females. Segregation analysis showed good agreement in autosomal dominant and recessive families and the data are indicative of the prevalence rate for different inheritance patterns of congenital cataract within the Indian population.     

Syndrome of short stature,microcephaly, mental retardation,and multiple epiphyseal dysplasia—Lowry-Wood syndrome

We describe a brother and a sister with a syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. The parents were normal. This appears to be the second example of the syndrome first described by Lowry and Wood [1975] in two boys who had epiphyseal dysplasia, short stature, microcephaly, and nystagmus; one of these patients was mildly mentally retarded. The Lowry-Wood syndrome probably is an autosomal recessive trait.     

Two sisters with clinical diagnosis of Wiskott-Aldrich syndrome: Is the condition in the family autosomal recessive?

We report two sisters in a family representing manifestations of Wiskott-Aldrich syndrome' (WAS), an X-linked immunodeficiency disorder. An elder sister had suffered from recurrent infections, small thrombocy-topenic petechiae, purpura, and eczema for 7 years. The younger sister had the same manifestations as the elder sister's for a 2-year period, and died of intracranial bleeding at age 2 years. All the laboratory data of the two patients were compatible with WAS, although they were females. Sialophorin analysis with the selective radioactive labeling method of this protein revealed that in the elder sister a 115-KD band that should be specific for sialophorin was reduced in quantity, and instead an additional 135-KD fragment was present as a main band. Poly-merase chain reaction (PCR) analysis of the sialophorin gene and single-strand conformation polymorphism (SSCP) analysis of the PCR product demonstrated that there were no detectable size-change nor elec-trophoretic mobility change in the DNA from both patients. The results indicated that their sialophorin gene structure might be normal. Studies on the mother-daughter transmission of X chromosome using a pERT84-MaeIII polymorphic marker mapped at Xp21 and HPRT gene polymorphism at Xq26 suggested that each sister had inherited a different X chromosome from the mother. Two explanations are plausible for the occurrence of the WAS in our patients: the WAS in the patients is attributable to an autosomal gene mutation which may regulate the sialophorin gene expression through the WAS gene, or, alternatively, the condition in this family is an autosomal recessive disorder separated etiologically from the X-linked WAS. © 1995 Wiley-Liss, Inc.     

Syndrome of mental retardation and distal arthrogryposis in sibs

Two sisters presented with a syndrome of characteristic facial anomalies and distal arthrogryposis. The older sister is now 4 years old and is severely mentally retarded. Her sister died of respiratory failure due to hypoplastic lungs shortly after birth. The occurrence of this potentially lethal syndrome in 2 sisters with unaffected parents suggests autosomal recessive inheritance.