Milicić Jasna, Bujas Petković Zorana, Bozikov Jadranka
Institute for Anthropological Research, Amruseva 8 (P.O. Box 290), 10000 Zagreb, Croatia.
Croat Med J. 2003 Aug;44(4):469-76.
To examine the role of the genetic component in the quantitative dermatoglyphic traits of autistic patients and their families, and the transmission of the autism.
Finger and palm prints were taken from 120 autistic patients (92 males and 28 females), their parents (92 mothers and 70 fathers), 32 healthy brothers and 28 sisters, as well as 400 healthy controls (200 males and 200 females). An analysis of quantitative traits of dermatoglyphs on the fingers (FRC - finger ridge count) and palms (a-b, b-c, and c-d ridge count, and atd angle) was performed. Descriptive statistics, multivariate analysis of variance (MANOVA) with Tukey HSD post hoc test, and discriminant analysis were used to determine the differences among the groups. In addition, correlations among family members were analyzed.
Multivariate analysis showed significant differences among examined groups of autistic patients and their family members and healthy volunteers regarding both group membership and sex. Autistic male patients differed significantly from the healthy controls in the ridge count (RC) on the fourth and fifth finger, and in a-b RC and atd angle of both hands. Healthy fathers of autistic patients differed in atd angle, and brothers of autistic patients differed in all palmar variables from the healthy control group. Mothers of autistic patients differed significantly from the healthy female controls in the RC of the first, fourth, and fifth finger, in a-b and c-d RC on the palms, and atd angle of both hands. The first two discriminant functions explained 85.4% of variance and separated groups clearly in two ways: the first function separated healthy controls from family members of autistic patients, and the second one males from females. Interfamilial analysis showed significant interclass correlations between autistic sons and their mothers or fathers in practically all variables. However, the correlation between parents and their autistic daughters was lower. Both mothers and fathers of autistic patients correlated with their healthy children only in palmar variables.
We found significant differences in ridge counts on the fingers and palms between the affected patients and their healthy controls, but these differences also existed between family members of autistic patients and healthy controls. Particularly pronounced were the differences between healthy female controls and female family members, including not only autistic female patients, but also their healthy mothers and sisters. Since the mothers and their autistic sons showed higher statistically significant correlation in most of the examined variables, unlike the mothers and their autistic or healthy daughters, it is possible that there is a connection between a recessive X-chromosome linkage, as a genetic component in the etiology of autistic disorders, and the influence of the inactivation of the affected X-chromosome in the females.
研究遗传因素在自闭症患者及其家庭成员的定量皮纹特征中的作用，以及自闭症的遗传传递情况。
采集了120名自闭症患者（92名男性和28名女性）、他们的父母（92名母亲和70名父亲）、32名健康的兄弟和28名姐妹以及400名健康对照者（200名男性和200名女性）的指纹和掌纹。对手指（FRC - 指嵴计数）和手掌（a - b、b - c和c - d嵴计数以及atd角）的皮纹定量特征进行了分析。采用描述性统计、带有Tukey HSD事后检验的多变量方差分析（MANOVA）以及判别分析来确定各组之间的差异。此外，还分析了家庭成员之间的相关性。
多变量分析显示，在自闭症患者及其家庭成员组与健康志愿者组之间，在组成员身份和性别方面均存在显著差异。自闭症男性患者在第四和第五指的嵴计数（RC）以及双手的a - b RC和atd角方面与健康对照者有显著差异。自闭症患者的健康父亲在atd角方面存在差异，自闭症患者的兄弟在所有手掌变量方面与健康对照组存在差异。自闭症患者的母亲在第一、第四和第五指的RC、手掌的a - b和c - d RC以及双手的atd角方面与健康女性对照者有显著差异。前两个判别函数解释了85.4%的方差，并以两种方式清晰地将各组区分开来：第一个函数将健康对照者与自闭症患者的家庭成员区分开，第二个函数将男性与女性区分开。家族间分析显示，在几乎所有变量中，自闭症儿子与其母亲或父亲之间存在显著的组内相关性。然而，父母与其自闭症女儿之间的相关性较低。自闭症患者的母亲和父亲仅在手掌变量方面与其健康子女存在相关性。
我们发现患病患者与其健康对照者在手指和手掌的嵴计数方面存在显著差异，但这些差异在自闭症患者的家庭成员与健康对照者之间也存在。健康女性对照者与女性家庭成员之间的差异尤为明显，其中不仅包括自闭症女性患者，还包括她们的健康母亲和姐妹。由于母亲与其自闭症儿子在大多数检测变量中显示出更高的统计学显著相关性，这与母亲与其自闭症或健康女儿的情况不同，因此有可能在作为自闭症病因遗传成分的隐性X染色体连锁与女性中受影响X染色体失活的影响之间存在联系。
