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Brief Report

Indian Pediatrics 1998; 35:1110-1113 

Inbreeding Effects on the Incidence of Congenital Disorders and Fetal Growth and Development at Birth in North India

Mohd. Afzal
Manazir Ali

From the Section of Genetics, Department of Zoology, Aligarh Muslim University, Aligarh 202 002, U.P. and *Department of Pediatrics (Neonatal Unit), Jawaharlal Nehru Medical College,
 Aligarh Muslim University,' Aligarh 202 002, U.P.

Reprint requests: Dr. Badaruddoza, Section of Genetics, Department of Zoology Aligarh Muslim University, Aligarh 202 002, U.P.

Manuscript received: November 7, 1997; Initial review completed: January 9, 1998;
Revision accepted: June 9,1998

Individuals who. are related through one or more common biological ancestors are called consanguineous relatives. In human population marriage largely regulates mating and consanguineous marriage thus leads to inbreeding. Inbreeding is the genetic consequences of consanguineous marriage. Parental consanguinity increases the frequency of homozygotes in the offspring at the expense of hetrozygotes, hidden recessive and additive alleles would thus increase in frequency in the inbred individuals. A large numbers of infant and childhood disorders of rare single lethal and sublethal recessives or polygenic combinations of rare recessives due to inbreeding have been observed by several authors(1-9).

A vast majority of Muslim population of North India still prefer consangumeous marriages(10). The present study was undertaken in a hospital of North India to assess the baseline information' on the prevalence of different genetic disorders and fetal growth and development with the common preference for consanguineous marriages.

Subjects and Methods

A total of 1672 singleton consecutive live births were studied from the Jawaharlal Nehru Medical College Hospital, Aligarh during the year 1991 and 1992. Each live new born was investigated by the authors (1st and 3rd) within 24 hours of birth for recording sex and gestational age, obtaining birth measurements and detection of congenital malformations. Birth weight was determined with a lever balance to an accuracy of 5 g and recumbent length was measured by infantometer of local make with an accuracy of 0.5 cm. Head circumference was measured with a nonstrechable fiber tape. All measurements were taken within six hours of birth except head circumference which was taken after 24 hours of birth. There were no cases of malformation among parents of the children examined in the present study.

The inbreeding coefficient has been de- fined as the probability of two homologous alleles of an individual being identical by descent and is equivalent to, the genetic correlation between uniting gametes(ll). In order to calculate the coefficient of inbreeding (F) through pedigree data we used slightly modified Wright's(12) formula:

                                       F = Σ (1/2)n (1 +Fa)

Where n is the number of persons along the path through a common ancestor connecting two parental gametes and Fa the inbreeding coefficient of that common ancestor. The sample size in the present study is not as large as would have been necessary to obtain significant effects of increased inbreeding. This is because the expected amount of change in means and variations on inbreeding among humans are small. The samples cannot be enlarged indefinitely because the samples of different levels of inbreeding have to be collected from the same gene pool and similar environmental background and it limits the population size and availability of suitable samples.


As verified from the pedigrees, the in- breeding coefficients of common ancestors of parents (Fa) pointed out to be zero in all present cases. The study samples the off- spring of first cousin (F = 0.0625), first cousin once removed (F = 0.0312); second cousin (F = 0.0156) and unrelated marriage (F = 0). The average coefficient of inbreeding of the study group was F = 0.0477.

Table I indicates that the average, in- breeding coefficient in 'the present study group (F = 0.0477) was higher than any other parts of the India(13). In more than 60% of the consanguineous marriages, the spouses were first cousins.

A total of 14 different congenital disorders were identified in the present study group (Table II). The role of inbreeding in the etiology of the congenital disorders is clearly shown in Table II & III. The incidence of congenital malformations among the consanguineous was significantly higher (p < 0.001) than that among the non- consanguineous marriages.

The mean values of the three anthropometric measurement and gestational period are given in Table IV. The mean birth weight, length, head circumference and gestational period of the babies born to consanguineous couples (C) was significantly lower (P <0.001) than that among the non-consanguineous marriages.

The results of one-way analysis of variance do not show any significant mean difference amongst FC, FOR and SC at 5% level of probability. The variance ratios (F) were 1.50, 1.54, 1.49 and 1.47, respectively for birth weight, length, head circumference and gestational period with df 3 and 1668, whereas in the results of regression analysis, inbreeding showed a significant negative correlation with all parameters. The slopes (b) - 7861.28
241.21,- 48.350.47, - 47.980.34, - 37.850.38, - 605.784.37 were significant at p <0.001 for birth weight, length, head circumference, gestational and congenital malformation, respectively.


Consanguinity implies greater homozygosity in the offspring for certain alleles. The average inbreeding quotient in the present study was higher than other re
ports from India(13). The present analysis of the data shows that inbreeding adversely affects the overall traits. However, all these parameters are subject to great variation with genetic and environmental factors. The socio-economic differences in the present sample are negligible, as the people were engaged in similar jobs, earned about the same salaries and resided in uniform type quarters in the adjacent colonies. The etiology of congenital malformation also seems to be multi-factorial genetically determined. In the present study, a high rate of parental consanguinity was observed among the affected persons.


Consanguinity Profile of the Study Group.

Type of consanguinity
Coefficient of
inbreeding (F)
Non-consanguineous (NC) 0.00 1037 62.02
Consanguineous (C) 0.0477 635 37.98
First cousins (FC) 0.0625 381 60.00
First cousins once removed (FOR) 0.0312 159 25.04
Second cousins (SC) 0.0156 95 . 14.96


Types of Congenital Disorders in the Study and Control Group

Type of malformation
No. (%)
No. (%)
Anencephalus 2 (0.31) -
Anomalies of eye 15 (2.36) 7 (0.68)
Anomalies of ear 2 (0.31) 1 (0.10)
Anomalies of face - 2 (0.19)
Anomalies of skin 1 (0.16) 3 (0.29)
Anomalies of sex organ 2 (0.32) 2 (0.19)
Anomalies of tongue 3 (0.47) 1 (0.10)
Abnormal hair colour 5 (0.79) 2 (0.19)
Absence of finger / toes 6 (0.94) 3 (0.29)
Club foot 7 (1.1 0) 1 (0.10)
Cleft lip with or without palate

4 (0.63)

1 (0.10)
Skeletal abnormalities 2 (0.31) -
Polydactyly 14 (2.20) 4 (0.39)
Hydrocephalus 1 (0.16) 1 (0.10)
Net total 64 (10.08) 28 (2.70)

The regression analysis clearly demonstrated significant negative correlations between consanguinity and anthropometric traits. The reduction of gestational period of consanguineous groups would have contributed significantly to the other , anthropometric reductions. Therefore, this approach, in evaluating inbreeding effects in human populations provides an insight into the magnitude of such effects (relative risks) as well as their impact in terms of prevention (attributable risk).


 Congenital Disorder and Consanguinity Classes of the Study Group

Parental relationship Number
NC 28
C 64
FC 40
FOR 15
SC 09



Mean and Standard Deviation of Birth weight, Recumbent Length, Head Circumference and
Gestational Period among Neonates by Parental Consanguinity.

Variables NC C FC FOR SC
Birth weight (g) 3268 1462.96 2953885.75 27721142.66 3050694.4 3062607.9
Length (cm) 51.255.80 49.294.03 48.255.27 49.602.77 51.022.14
Head circumference (cm) 36.765.47 34.894.54 34.064.88 32.942.27 35.552.44
Gestational period (week) 38.506.44 36.775.04 36.305.47 35.823.03 36.912.43
Number studied 1037 635 381 159 95

NC = non consanguineous (F
= 0), C = Consanguineous (F = 0.0477), FC = First cousin (F = 0.0625), FOR = First cousin once removed (F = 0.03125), SC = Second Cousin (F = 0.0156).



The work is supported in part by ICMR and CSIR for providing a Research Associateship to the first author. We are also grateful for the constructive comments of the two anonymous reviewers on the previous draft of this paper.



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