Xeroderma pigmentosum in Egypt. III. ABO blood grouping in 22 affected families.
Xeroderma pigmentosum in Egypt. III. ABO blood grouping in 22 affected families.
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埃及着色性干皮病。
DOI：
10.1111/j.1469-1809.1984.tb00835.x
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发表时间：
1984
影响因子：
1.9
通讯作者：
Cleaver,JE
中科院分区：
文献类型：
--
作者：
German,J;Hashem,N;El-Hefnawi,M;Cleaver,JE
*。纽约大学医学院放射生物学与环境卫生图书馆，纽约，纽约10021；旧金山，(加利福尼亚州94143 lri 1965 H. HI-Hefnawi， S. maynartii - smith和1，。S. t 'enrose检查了34个埃及家庭的A130血型，其中至少有一人患有色素性干皮病（XP）。据报道，46名受影响的患者中有37人是0型血。0组个体的OX （* CSS为0.8043）与0组个体的c频率有显著性差异。它的控制标准（0.3220）。开罗地区5200名居民。中华人民共和国:占主导地位。献血者。ht 7”。我对这些数据进行了复杂的基因分析。分析并获得了A130低位点与XI“位点”之间连锁的有力证据，重组分数为0= 0.179 （El-H afnaw i, Maynard-Sm ith & t’enrosc, 1965）。Sinc。报告出现时，ABO基因座已被定位到远端。9号染色体长臂（Ferguson-Smith等人，1976），而XI '已被发现是异常的。tc。同质GCNCT ica。莉莉：哦！[13:3]是的。我想去看看这个城市。大多数具有XI临床特征的人被发现是有缺陷的。从它们的细胞中去除嘧啶二聚体。紫外光（波长254nm）辐照，而离子。其余的都是(1)。ct印度河流域文明。辐照对DNA复制的影响（Andrews. 1983; Clcavcr. 1983）。Purthcrmorc。c* c. l-融合技术表明，视觉缺陷的人属于多重视觉环境。离子群，很可能代表超过1个位点的突变（andrewws, 1983; Cleaver. 1985; Kobbins et a. 1）。1)74)。因此，XP中的联动分析已经承担了c*的复杂性，而c~)在1965年是不会暂停的。标准普尔在世界各地都是生的，但由于未知的原因，它在埃及和埃及相对普遍。还有其他南非国家。自1978年以来，我们一直在对埃及XI ' s的多个方面进行研究（Hashem et al. 1980; Ilcaver et al. 1981）。在其他clt诊断中，尽可能对受影响的患者及其亲属进行ABO血型诊断。尽管长期研究还不完善，但没有任何类型数据足以表明存在与El-Hefnawi报告的类型分布非常不同的分布。（1965）：本临时报告。在受影响的人群中不存在超过0组的情况。没有出现XP/A BO联动的迹象。相比之下，13型和413型的人较少，而13型和AH型的人在HI-I报告中实际上是成瘾的。在这个世界上。调查中，我们共检查了32例XP患者，主要集中在其中。c-linic。我喜欢，我喜欢，我喜欢。这是艾恩-夏姆斯大学中心。他们是25个显然不明确的国家的成员。慢性阻塞性肺病：50人患此病。我被诊断为XI '。由两者组成。xc。isioii-d(。健康。c. rit (groups and (') and (') and cxc。iion -profic, icnt (' variant. ') pwsons （' loavttr . '）1981)。在我们的文献中，已知只有一个家族在El-Hefnawi等人的系列（1965）中出现过，他们的“家族A”与我们的“家族I”相对应（图1）。“家族I”具有复杂的家族结构。索米：谁
* The. Yew York U ld (’rnter, h’ew York, New York 10021 t A in-Shams l, 7ninemity, Cairo $ Lnbvrntory of Radiobiology and Knvironmrntnl Health, I’nioersity of Culiforniri Medical School. Snn Francisco,(hlifornia 94143 lri 1965 H. HI-Hefnawi, S. Maynarti-Smith and 1,. S. t’enrose examined tht: A130 blood grouping in 34 Egyptian families in which at least 1 person had xeroderma pigmentosum (XP).‘I’hcy reported that 37 of the 46 affected pt: rsons were blood group 0. This rcmarkahlt: OX (* CSS of group 0 individuals (0.8043) was in striking contrast to thc frequency of 0 individuals in tht. ir cwntrol scbrics (0.3220). 5200 inhabitants of tho Cairo area. prc: dominant. ly blood donors. 7 ‘ht. y subjected t. he data to a sophisticated genetic. analysis and obtained strong cvidcncc for linkage bctwwn thc A130 locw and the XI’‘locus’, with a recombination fraction of 0= 0.179 (El-H afnaw i, Maynard-Sm it h & t’enrosc, 1 965). Sinc. cb that report appeared, the ABO locus has been mapped to the distal part. of thc long arm of’chromosomo 9 (Ferguson-Smith ef al. 1976), and XI’has been found to bc ttxtraordinarily ht. tc. rogeneous gcnct ica. lly (Andrtwx l! l8: 3). i2’it. h rt: spoct to t. his hetcv-ogcwcity, tht. majority of p: rsons wit h c. linic* al features of XI’have heon found to bo drficicnt. at excising pyrimidine dimers from their cells following ult. raviolet (254 nm wavelength) irradiat, ion while tht. rcmaindcr art’d (: fi. ct ivc. in DNA replication following irradiation (Andrews. 1983; Clcavcr. 1983). Purthcrmorc. c* c. ll-fusion twhniques have shown that t. he cxc: ision-dcficiant persons fall iQto multiplc coni~) lcmentat. ion groups, very possibly rcprcsenting mutations at morc than ontr loc* us (Andrcws, 1983; Cleaver. 1985; Kobbins et a. 1. 1!) 74). Therefore, linkage analysis in XP has takcn on il c* omplcxity that c~) uld not have twn suspwtcd in 1965. S P is raw in all prts of t. he world, but for unknown rcasons it is relatively common in Egypt and wrt. ain other Sorth African wuntries. Since 1978 we haw been conducting a study of multiplt~ aspwts of XI’in Egypt (Hashem et al. 1980;(Ilcaver et al. 1981) and. among othcr clt: tc~ minations, havc pwformod ABO hlood typing when possible on affected p: rsons and their rclativcs.-4lt. hough the long-term study is incwmpleti:, An0 typing data arc sufficient to show thc cxistcnce of a distribution of types very different from t. hat rcportcd by El-Hefnawi rt n/.(1965): t. hus this interim report. Xo excess of group 0 among the affected persons exists. and no suggcstion of XP/A BO linkage emerges. In contrast, a slight cx (: ess of persons with blood typs 13 and, 413 is present, whereas persons of type 13 and AH sctually were ddicicmt in thc HI-I Icfnawi et al. report.In t hc cntirc. survey, wt oursclvcs haw: oxamined 32 persons with XP, mainly in tht. c-linic. of I lit,(; cnt. tic* s Centcr of Ain-Shams 1Tnivcrsity. They are members of 25 apparently unrclat. cd fiiniilic: s in whoni 50 persons have. bwn diagnoscd XI’. comprising both (. xc. isioii-d (. fit. ic. rit (groups and (’) and cxc. iRion-profic, icnt (‘variant.’) pwsons ((” loavttr rt a/. 1981). Only one family in our xcrit: s is known to haw been represented in t. he El-Hefnawi et al. series (1965), their’Family A’bcing our ‘Family I:‘(Figurc 1).‘I ‘hv complotc Ixdigrccs of families. somi: of whom