Skip to main content

SEX LINKED INHERITANCE

a. X- linked dominant (X-LD) inheritance:
 Uncommon, but disorders, manifest in the heterozygous female as well as in the male,
with the mutant allele on his single X chromosome.
 An excess of affected females may be seen in families with X-LD disorders.
 A mosaic pattern demonstrated in affected heterozygous females for some X-LD
disorders.
 Both the daughters & the sons of an affected female with X-LD disorder, have 1 in 2
(50%) chance of being affected.
 Affected male transmit the trait to the daughters but none to his sons.
 Examples: Vitamin D-resistant rickets, Incontinentia pigmenti.
b. X-linked recessive(X-LR) inheritance:
 It usually manifests only in males.
 A male with a mutant allele on his single X is called hemizygous.
 A male can’t transmit X-linked trait to his son.
 X-linked recessive diseases are transmitted by healthy heterozygous female carriers to
male.


 Trait is transmitted to male grandchild through the obligate carrier daughters. This
type of pedigree is referred to as a ‘diagonal or a knight’s move’ pattern of transmission.
 In hetrozygous females, variable expression seen.
 A male transmits his X to his daughters & Y to his sons.
 For an affected male with a normal female: all daughters will be obligate carrier, but
none of the sons will be affected.
 For a carrier female with a normal male, each son has a 1 in 2 (50%) chance of being
affected & each daughter has 1 in 2 (50%) chance of being obligate carrier.
 Examples: Haemophilia, DMD (Duchenne Muscular Dystrophy).
c. Y-linked inheritance / Holandric inheritance:
 Y- linked or holandric inheritance implies that only males are affected.
 Affected male transmits Y –linked trait to all his sons, but none to the daughters.

Comments

Popular posts from this blog

Banking (ICSE Class 10 Mathematics Project)

BANK ACCOUNT A bank account is a financial account between a bank customer and a financial institution. A bank account can be a deposit account, a credit card, or any other type of account offered by a financial institution. The financial transactions which have occurred within a given period of time on a bank account are reported to the customer on a bank statement and the balance of the account at any point in time is the financial position of the customer with the institution. a fund that a customer has entrusted to a bank and from which the customer can make withdrawals. BANK A bank is a financial institution and a financial intermediary that accepts deposits and channels those deposits into lending activities, either directly by loaning or indirectly through capital markets. A bank links together customers that have capital deficits and customers with capital surplu...

KARYOTYPE

 A karyotype refers to a full set of chromosomes from an individual arranged according to length, position of centromere, banding pattern.  Karyotype is written as total number of chromosomes followed by sex chromosomes  Normal male karyotype: 46,XY, normal female karyotype: 46,XX  Chromosomes are classified into 7 groups and pasted accordingly- Group A- 1, 2, 3; group B- 4, 5; group C- 6-12, X; group D- 13, 14, 15; group E- 16, 17, 18; group F- 19, 20; group G- 21, 22, Y

X CHROMOSOME

X CHROMOSOME   The X chromosome is one of the two sex-determining chromosomes and is found in both males and females.  It is submetacentric chromosome classified under ‘C’ group chromosomes  Females have two X chromosomes, whereas males have one X and one Y chromosome.  Both males and females retain one of their mother's X chromosomes, and females retain their second X chromosome from their father.  Early in embryonic development in females, one of the two X chromosomes is randomly and permanently inactivated in nearly all somatic cells. This phenomenon is called X-inactivation or Lyonization. The inactive X- chromosome is tightly coiled and hence stains dark purple and is seen as Barr body within the nucleus of a female. The X chromosome is notably larger and has a more active euchromatin region.  Numerical alteration in Sex chromosomes result in abnormalities eg Turner’s syndrome (XO), Klinefelter’s syndrome (XXY) and Triple X syndrome (XXX).  , S...